I60L (p.Ile60Leu) variant of CASP9 (Caspase-9)
I60L (p.Ile60Leu) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
I60L (p.Ile60Leu) variant details
- p.Ile60Leu
- 1000Genomes rs200592766
- ExAC rs200592766
- TOPMed rs200592766
- gnomAD rs200592766
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.07
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available