Q54R (p.Gln54Arg) variant of CASP9 (Caspase-9)
Q54R (p.Gln54Arg) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
Q54R (p.Gln54Arg) variant details
- p.Gln54Arg
- TOPMed rs1710041686
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.32
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available