D5V (p.Asp5Val) variant of CASP9 (Caspase-9)
D5V (p.Asp5Val) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
D5V (p.Asp5Val) variant details
- p.Asp5Val
- gnomAD rs1481496881
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.25
- CADD 23.80
- PolyPhen-2 0.47
- SIFT 0.03
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available