Protein level identifier (n.a.):
p.Ile344Lys
cDNA level identifier (n.a.):
c.1031T>A
Gene level identifier:
g.52535T>A
Reference, alternative allele:
T, A
Genomic location
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
26
Positive functional evidence:
Number of all included cases:
9 heterozygous (9 in total).