R6P (p.Arg6Pro) variant of CASP9 (Caspase-9)
R6P (p.Arg6Pro) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
R6P (p.Arg6Pro) variant details
- p.Arg6Pro
- cosmic curated COSV10453
- TOPMed rs1557559529
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.45
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available