Protein level identifier (NP_001073136):
p.Pro291Leu
cDNA level identifier (NM_001079668):
c.872C>T
Gene level identifier:
g.3538C>T
Reference, alternative allele:
G, A
Genomic location hg(19)
14:36986817 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
27
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).