M30K (p.Met30Lys) variant of VPS35 (Q96QK1)
M30K (p.Met30Lys) in VPS35 (Q96QK1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Parkinson disease 17. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
M30K (p.Met30Lys) variant details
- p.Met30Lys
- rs145147781
- ClinGen CA8037124
- ClinVar RCV000406026
- ClinVar RCV005865298
- Uncertain significance
- not provided; Parkinson disease 17
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.83
- CADD 28.70
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Parkinson disease 17)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Amish population (allele frequency 0.027)
- Structural context available
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)
- Cited in: VPS35-Related Parkinson Disease. (PMID 28796472)