R88C (p.Arg88Cys) variant of BAK1 (Q16611)
R88C (p.Arg88Cys) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R88C (p.Arg88Cys) variant details
- p.Arg88Cys
- ExAC rs746711568
- TOPMed rs746711568
- gnomAD rs746711568
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.30
- CADD 28.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available