Protein level identifier (NP_113606):
p.Arg494Trp
cDNA level identifier (NM_031418):
c.1480A>T
Gene level identifier:
g.409116A>T
Reference, alternative allele:
A, T
Genomic location hg(19)
11:26619944 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
30
Positive functional evidence:
not available
Number of all included cases:
5 heterozygous (5 in total).