Protein level identifier (n.a.):
p.Ser218Leu
cDNA level identifier (n.a.):
c.653C>T
Gene level identifier:
g.258543C>T
Reference, alternative allele:
G, A
Genomic location hg(0)
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Not available
CADD score:
31
Positive functional evidence:
Number of all included cases:
4 heterozygous (4 in total).