Q7R (p.Gln7Arg) variant of BAX (Apoptosis regulator BAX)
Q7R (p.Gln7Arg) in BAX (Apoptosis regulator BAX) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
Q7R (p.Gln7Arg) variant details
- p.Gln7Arg
- TOPMed rs1478724845
- gnomAD rs1478724845
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.08
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available