I241V (p.Ile241Val) variant of VPS35 (Q96QK1)
I241V (p.Ile241Val) in VPS35 (Q96QK1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Parkinson disease 17. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
I241V (p.Ile241Val) variant details
- p.Ile241Val
- TOPMed rs1398722917
- Uncertain significance
- Parkinson disease 17
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.06
- CADD 16.60
- PolyPhen-2 0.01
- SIFT 0.79
- ClinVar: Uncertain significance (Parkinson disease 17)
- UniProt: Uncertain significance (found in a patient with Parkinson disease)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available