E76K (p.Glu76Lys) variant of CASP3 (Caspase-3)
E76K (p.Glu76Lys) in CASP3 (Caspase-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E76K (p.Glu76Lys) variant details
- p.Glu76Lys
- gnomAD 4-184632349-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.08
- CADD 17.20
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available