Protein level identifier (NP_115785):
p.Pro416Leu
cDNA level identifier (NM_032409):
c.1247C>T
Gene level identifier:
g.15174C>T
Reference, alternative allele:
C, T
Genomic location hg(19)
1:20975121 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
34
Positive functional evidence:
Number of all included cases:
1 homozygous (1 in total).