Protein level identifier (n.a.):
p.Ile333Lys
cDNA level identifier (n.a.):
c.998T>A
Gene level identifier:
g.89342T>A
Reference, alternative allele:
T, A
Genomic location hg(0)
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).