Q13R (p.Gln13Arg) variant of CASP8 (Caspase-8)
Q13R (p.Gln13Arg) in CASP8 (Caspase-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
Q13R (p.Gln13Arg) variant details
- p.Gln13Arg
- gnomAD 2-201266524-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- CADD 10.30
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available