D5A (p.Asp5Ala) variant of CASP9 (Caspase-9)
D5A (p.Asp5Ala) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D5A (p.Asp5Ala) variant details
- p.Asp5Ala
- gnomAD rs1481496881
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.13
- CADD 20.30
- PolyPhen-2 0.11
- SIFT 0.09
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available