Protein level identifier (n.a.):
p.Pro293Leu
cDNA level identifier (n.a.):
c.878C>T
Gene level identifier:
g.52099C>T
Reference, alternative allele:
C, T
Genomic location
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
22
Positive functional evidence:
not available
Number of all included cases:
3 heterozygous (3 in total).