Protein level identifier (n.a.):
p.Arg591Trp
cDNA level identifier (n.a.):
c.1771C>T
Gene level identifier:
g.75918C>T
Reference, alternative allele:
G, A
Genomic location hg(0)
22:38512190 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
26
Positive functional evidence:
not available
Number of all included cases:
2 compound heterozygous (2 in total).