D169H (p.Asp169His) variant of VPS35 (Q96QK1)
D169H (p.Asp169His) in VPS35 (Q96QK1) is a missense change. Clinical records from ClinVar, EBI, 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
D169H (p.Asp169His) variant details
- p.Asp169His
- rs1434089382
- ClinGen CA395813951
- ClinVar RCV001117354
- gnomAD rs1434089382
- Uncertain significance
- Parkinson disease 17
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.11
- CADD 23.90
- PolyPhen-2 0.14
- SIFT 0.06
- ClinVar: Uncertain significance (Parkinson disease 17)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)
- Cited in: VPS35-Related Parkinson Disease. (PMID 28796472)