Protein level identifier (NP_001135811):
p.Val354Met
cDNA level identifier (NM_001142339):
c.1060G>A
Gene level identifier:
g.192094G>A
Reference, alternative allele:
G, A
Genomic location hg(19)
18:11881048 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
26
Positive functional evidence:
not available
Number of all included cases:
3 heterozygous (3 in total).