Protein level identifier (n.a.):
p.Glu112Lys
cDNA level identifier (n.a.):
c.334G>A
Gene level identifier:
g.555G>A
Reference, alternative allele:
G, A
Genomic location
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
18
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).