A301T (p.Ala301Thr) variant of VPS35 (Q96QK1)
A301T (p.Ala301Thr) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A301T (p.Ala301Thr) variant details
- p.Ala301Thr
- TOPMed rs1966156294
- gnomAD rs1966156294
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.23
- CADD 24.60
- Population evidence available
- Structural context available