R45Q (p.Arg45Gln) variant of CASP9 (Caspase-9)
R45Q (p.Arg45Gln) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
R45Q (p.Arg45Gln) variant details
- p.Arg45Gln
- ESP rs373471214
- ExAC rs373471214
- TOPMed rs373471214
- gnomAD rs373471214
- Missense
- Variant Prioritization Score for Impact Estimate 0.0627
- REVEL 0.02
- CADD 7.53
- PolyPhen-2 0.03
- SIFT 0.40
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available