E36R (p.Glu36Arg) variant of CASP8 (Caspase-8)
E36R (p.Glu36Arg) in CASP8 (Caspase-8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
E36R (p.Glu36Arg) variant details
- p.Glu36Arg
- rs1432940998
- gnomAD 2-201258347-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.0974
- CADD 2.37
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available