Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1546G>A
p.Val516Met (Legacy AA No. 498)
Variant Type: 
Point
Domain: 
Serine Protease
Codon Change: 
G>A
Variant Effect: 
Missense
No. of Patients Reported: 
1
Phenotype: 
U
Allele Count *: 
7
Allele Number *: 
251456
Allele Frequency *: 
0.000028