Protein level identifier (NP_115785):
p.Pro416Arg
cDNA level identifier (NM_032409):
c.1247C>G
Gene level identifier:
g.15174C>G
Reference, alternative allele:
C, G
Genomic location hg(19)
1:20975121 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
29
Positive functional evidence:
Number of all included cases:
2 homozygous (2 in total).