A69P (p.Ala69Pro) variant of CASP9 (Caspase-9)
A69P (p.Ala69Pro) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
A69P (p.Ala69Pro) variant details
- p.Ala69Pro
- ExAC rs773523203
- TOPMed rs773523203
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.66
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available