Protein level identifier (n.a.):
p.Ser595Arg
cDNA level identifier (n.a.):
c.1783A>C
Gene level identifier:
g.90818A>C
Reference, alternative allele:
A, C
Genomic location
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
25
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).