D5Y (p.Asp5Tyr) variant of CASP9 (Caspase-9)
D5Y (p.Asp5Tyr) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
D5Y (p.Asp5Tyr) variant details
- p.Asp5Tyr
- ESP rs374378619
- TOPMed rs374378619
- gnomAD rs374378619
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.14
- CADD 20.80
- PolyPhen-2 0.47
- SIFT 0.07
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available