I50L (p.Ile50Leu) variant of CASP3 (Caspase-3)
I50L (p.Ile50Leu) in CASP3 (Caspase-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
I50L (p.Ile50Leu) variant details
- p.Ile50Leu
- ESP rs146079573
- TOPMed rs146079573
- gnomAD rs146079573
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.31
- CADD 25.70
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available