Protein level identifier (NP_113606):
p.Ile833Val
cDNA level identifier (NM_031418):
c.2497A>G
Gene level identifier:
g.458496A>G
Reference, alternative allele:
A, G
Genomic location hg(19)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
16
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).