Protein level identifier (NP_001135811):
p.Met97Val
cDNA level identifier (NM_001142339):
c.289A>G
Gene level identifier:
g.64886A>G
Reference, alternative allele:
A, G
Genomic location hg(19)
18:11753840 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
21
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).