R34P (p.Arg34Pro) variant of BAX (Apoptosis regulator BAX)
R34P (p.Arg34Pro) in BAX (Apoptosis regulator BAX) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R34P (p.Arg34Pro) variant details
- p.Arg34Pro
- rs760586942
- ExAC rs760586942
- TOPMed rs760586942
- gnomAD rs760586942
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.27
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available