Protein level identifier (n.a.):
p.Ala198Thr
cDNA level identifier (n.a.):
c.592G>A
Gene level identifier:
g.10680G>A
Reference, alternative allele:
G, A
Genomic location hg(19)
23:19372690 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
29
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).