Protein level identifier (n.a.):
p.Met153Val
cDNA level identifier (n.a.):
c.457A>G
Gene level identifier:
g.9228A>G
Reference, alternative allele:
A, G
Genomic location hg(19)
23:19369450 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
24
Positive functional evidence:
not available
Number of all included cases:
1 n.a. (1 in total).