Protein level identifier (n.a.):
p.Ala557Val
cDNA level identifier (n.a.):
c.1670C>T
Gene level identifier:
g.81380C>T
Reference, alternative allele:
C, T
Genomic location
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
32
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).