N37S (p.Asn37Ser) variant of VPS35 (Q96QK1)
N37S (p.Asn37Ser) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
N37S (p.Asn37Ser) variant details
- p.Asn37Ser
- rs777006799
- ClinGen CA8037108
- ClinVar RCV001983502
- ClinVar RCV004793678
- Uncertain significance
- Parkinson disease 17; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.05
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Uncertain significance (Parkinson disease 17; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)
- Cited in: VPS35-Related Parkinson Disease. (PMID 28796472)