A55D (p.Ala55Asp) variant of CASP9 (Caspase-9)
A55D (p.Ala55Asp) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
A55D (p.Ala55Asp) variant details
- p.Ala55Asp
- TOPMed rs1319407780
- gnomAD rs1319407780
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.47
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available