R42C (p.Arg42Cys) variant of BAK1 (Q16611)
R42C (p.Arg42Cys) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R42C (p.Arg42Cys) variant details
- p.Arg42Cys
- cosmic curated COSV10652
- ESP rs368815273
- ExAC rs368815273
- TOPMed rs368815273
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.22
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available