Protein level identifier (n.a.):
p.Leu491Phe
cDNA level identifier (n.a.):
c.1471C>T
Gene level identifier:
g.68886C>T
Reference, alternative allele:
G, A
Genomic location hg(0)
22:38519222 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
25
Positive functional evidence:
not available
Number of all included cases:
1 homozygous (1 in total).