R5K (p.Arg5Lys) variant of CASP8 (Caspase-8)
R5K (p.Arg5Lys) in CASP8 (Caspase-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
R5K (p.Arg5Lys) variant details
- p.Arg5Lys
- rs2125045953
- gnomAD 2-201258245-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- CADD 4.05
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available