Protein level identifier (n.a.):
p.Arg460Ser
cDNA level identifier (n.a.):
c.1378C>A
Gene level identifier:
g.73323C>A
Reference, alternative allele:
C, A
Genomic location
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
27
Positive functional evidence:
not available
Number of all included cases:
3 heterozygous (3 in total).