R36C (p.Arg36Cys) variant of BAK1 (Q16611)
R36C (p.Arg36Cys) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R36C (p.Arg36Cys) variant details
- p.Arg36Cys
- ExAC rs750765569
- TOPMed rs750765569
- gnomAD rs750765569
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.11
- CADD 23.20
- PolyPhen-2 0.04
- SIFT 0.12
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available