R126S (p.Arg126Ser) variant of VPS35 (Q96QK1)
R126S (p.Arg126Ser) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R126S (p.Arg126Ser) variant details
- p.Arg126Ser
- ESP rs141444850
- ExAC rs141444850
- TOPMed rs141444850
- gnomAD rs141444850
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.27
- CADD 22.20
- PolyPhen-2 0.54
- SIFT 0.25
- Most common in the African/African-American population (allele frequency 0.00019)
- Structural context available