Protein level identifier (NP_000152):
p.Met137Val
cDNA level identifier (NM_000161):
c.409A>G
Gene level identifier:
g.37482A>G
Reference, alternative allele:
T, C
Genomic location hg(0)
14:55332089 (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).