K117T (p.Lys117Thr) variant of CASP9 (Caspase-9)
K117T (p.Lys117Thr) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
K117T (p.Lys117Thr) variant details
- p.Lys117Thr
- TOPMed rs954220384
- gnomAD rs954220384
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.01
- CADD 0.18
- PolyPhen-2 0.04
- SIFT 0.75
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available