L70I (p.Leu70Ile) variant of CASP9 (Caspase-9)
L70I (p.Leu70Ile) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L70I (p.Leu70Ile) variant details
- p.Leu70Ile
- ExAC rs768292818
- gnomAD rs768292818
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.23
- CADD 24.80
- PolyPhen-2 0.93
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available