Protein level identifier (n.a.):
p.Val581Leu
cDNA level identifier (n.a.):
c.1741G>C
Gene level identifier:
g.315532G>C
Reference, alternative allele:
C, G
Genomic location hg(0)
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
26
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).