D27V (p.Asp27Val) variant of CASP9 (Caspase-9)
D27V (p.Asp27Val) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
D27V (p.Asp27Val) variant details
- p.Asp27Val
- ESP rs377288490
- ExAC rs377288490
- TOPMed rs377288490
- gnomAD rs377288490
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.28
- CADD 27.50
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available