Protein level identifier (n.a.):
p.Ala80Thr
cDNA level identifier (n.a.):
c.238G>A
Gene level identifier:
g.46476G>A
Reference, alternative allele:
C, T
Genomic location hg(0)
22:38541632 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
23
Positive functional evidence:
not available
Number of all included cases:
2 homozygous (2 in total).