A4V (p.Ala4Val) variant of CASP9 (Caspase-9)
A4V (p.Ala4Val) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- ExAC rs758586451
- gnomAD rs758586451
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.09
- CADD 18.30
- PolyPhen-2 0.60
- SIFT 0.17
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available