L70V (p.Leu70Val) variant of CASP9 (Caspase-9)
L70V (p.Leu70Val) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
L70V (p.Leu70Val) variant details
- p.Leu70Val
- ExAC rs768292818
- gnomAD rs768292818
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.30
- CADD 24.40
- PolyPhen-2 0.94
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available