Protein level identifier (n.a.):
p.Asp555Gly
cDNA level identifier (n.a.):
c.1664A>G
Gene level identifier:
g.81374A>G
Reference, alternative allele:
A, G
Genomic location
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
29
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).