D17V (p.Asp17Val) variant of VPS35 (Q96QK1)
D17V (p.Asp17Val) in VPS35 (Q96QK1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
D17V (p.Asp17Val) variant details
- p.Asp17Val
- ExAC rs773381942
- TOPMed rs773381942
- gnomAD rs773381942
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.53
- CADD 31.00
- PolyPhen-2 0.64
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available