T82R (p.Thr82Arg) variant of VPS35 (Q96QK1)
T82R (p.Thr82Arg) in VPS35 (Q96QK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
T82R (p.Thr82Arg) variant details
- p.Thr82Arg
- rs188245364
- UniProt VAR 066655
- Ensembl rs188245364
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.31
- CADD 22.60
- PolyPhen-2 0.37
- SIFT 0.45
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. (PMID 21763483)