Protein level identifier (n.a.):
p.Leu447Val
cDNA level identifier (n.a.):
c.1339T>G
Gene level identifier:
g.73284T>G
Reference, alternative allele:
T, G
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:
1 heterozygous (1 in total).