R237C (p.Arg237Cys) variant of VPS35 (Q96QK1)
R237C (p.Arg237Cys) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R237C (p.Arg237Cys) variant details
- p.Arg237Cys
- TOPMed rs1186642885
- gnomAD rs1186642885
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.18
- CADD 23.90
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available