Protein level identifier (n.a.):
p.Lys388Arg
cDNA level identifier (n.a.):
c.1163A>G
Gene level identifier:
g.63402A>G
Reference, alternative allele:
A, G
Genomic location
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
29
Positive functional evidence:
Number of all included cases:
1 heterozygous (1 in total).