N252S (p.Asn252Ser) variant of VPS35 (Q96QK1)
N252S (p.Asn252Ser) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
N252S (p.Asn252Ser) variant details
- p.Asn252Ser
- rs1966167510
- ClinGen CA395811776
- ClinVar RCV003640675
- TOPMed rs1966167510
- Uncertain significance
- Parkinson disease 17
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.13
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Parkinson disease 17)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)
- Cited in: VPS35-Related Parkinson Disease. (PMID 28796472)