Protein level identifier (NP_055542):
p.Ser1615Leu
cDNA level identifier (NM_014727):
c.4844C>T
Gene level identifier:
g.11204C>T
Reference, alternative allele:
C, T
Genomic location hg(0)
19:36220124 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
28
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).