Protein level identifier (n.a.):
p.Met210Val
cDNA level identifier (n.a.):
c.628A>G
Gene level identifier:
g.11481A>G
Reference, alternative allele:
A, G
Genomic location hg(19)
23:19373491 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
25
Positive functional evidence:
not available
Number of all included cases:
1 n.a. (1 in total).