S120R (p.Ser120Arg) variant of CASP3 (Caspase-3)
S120R (p.Ser120Arg) in CASP3 (Caspase-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
S120R (p.Ser120Arg) variant details
- p.Ser120Arg
- gnomAD 4-184631888-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.70
- CADD 23.90
- PolyPhen-2 0.74
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available