V8M (p.Val8Met) variant of CASP3 (Caspase-3)
V8M (p.Val8Met) in CASP3 (Caspase-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
V8M (p.Val8Met) variant details
- p.Val8Met
- TOPMed rs950745993
- gnomAD rs950745993
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.07
- CADD 23.20
- PolyPhen-2 0.39
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available