E43K (p.Glu43Lys) variant of CASP3 (Caspase-3)
E43K (p.Glu43Lys) in CASP3 (Caspase-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E43K (p.Glu43Lys) variant details
- p.Glu43Lys
- gnomAD rs1411451236
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.12
- CADD 18.50
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available