Protein level identifier (n.a.):
p.Ala485Val
cDNA level identifier (n.a.):
c.1454C>T
Gene level identifier:
g.73539C>T
Reference, alternative allele:
C, T
Genomic location
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
24
Positive functional evidence:
not available
Number of all included cases:
4 heterozygous (4 in total).