Protein level identifier (n.a.):
p.Ala516Val
cDNA level identifier (n.a.):
c.1547C>T
Gene level identifier:
g.68962C>T
Reference, alternative allele:
G, A
Genomic location hg(0)
22:38519146 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
28
Positive functional evidence:
not available
Number of all included cases:
2 homozygous (2 in total).