A55V (p.Ala55Val) variant of CASP9 (Caspase-9)
A55V (p.Ala55Val) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A55V (p.Ala55Val) variant details
- p.Ala55Val
- TOPMed rs1319407780
- gnomAD rs1319407780
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.18
- CADD 25.40
- PolyPhen-2 0.85
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available