Protein level identifier (n.a.):
p.Ala428Pro
cDNA level identifier (n.a.):
c.1282G>C
Gene level identifier:
g.72989G>C
Reference, alternative allele:
G, C
Genomic location
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
28
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).