E3K (p.Glu3Lys) variant of CASP9 (Caspase-9)
E3K (p.Glu3Lys) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E3K (p.Glu3Lys) variant details
- p.Glu3Lys
- gnomAD rs1399201437
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.22
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available