G51S (p.Gly51Ser) variant of VPS35 (Q96QK1)
G51S (p.Gly51Ser) in VPS35 (Q96QK1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Parkinson disease 17. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G51S (p.Gly51Ser) variant details
- p.Gly51Ser
- rs193077277
- ClinGen CA8037106
- ClinVar RCV000577720
- ClinVar RCV002225671
- Conflicting interpretations
- not provided; Parkinson disease 17
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.24
- CADD 21.70
- PolyPhen-2 0.03
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Parkinson disease 17)
- EBI: Benign (in dbSNP:rs193077277)
- UniProt: Benign (in dbSNP:rs193077277)
- Most common in the HGDP:DAUR population (allele frequency 0.11)
- Structural context available
- Cited in: A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. (PMID 21763483)
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)