Protein level identifier (n.a.):
p.Lys591Glu
cDNA level identifier (n.a.):
c.1771A>G
Gene level identifier:
g.90806A>G
Reference, alternative allele:
A, G
Genomic location
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
24
Positive functional evidence:
not available
Number of all included cases:
3 heterozygous (3 in total).