Protein level identifier (n.a.):
p.Val253Ile
cDNA level identifier (n.a.):
c.757G>A
Gene level identifier:
g.81898G>A
Reference, alternative allele:
G, A
Genomic location hg(0)
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
23
Positive functional evidence:
not available
Number of all included cases:
6 heterozygous (6 in total).