V8L (p.Val8Leu) variant of CASP3 (Caspase-3)
V8L (p.Val8Leu) in CASP3 (Caspase-3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
V8L (p.Val8Leu) variant details
- p.Val8Leu
- TOPMed rs950745993
- gnomAD rs950745993
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.06
- CADD 22.70
- PolyPhen-2 0.04
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available