V83I (p.Val83Ile) variant of SLC6A3 (Q01959)
V83I (p.Val83Ile) in SLC6A3 (Q01959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Parkinsonism-dystonia, infantile. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
V83I (p.Val83Ile) variant details
- p.Val83Ile
- TOPMed rs911289736
- gnomAD rs911289736
- Uncertain significance
- Parkinsonism-dystonia, infantile
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.49
- MetaLR 0.51
- MetaSVM 0.04
- CADD 23.70
- PolyPhen-2 0.95
- SIFT 0.08
- ClinVar: Uncertain significance (Parkinsonism-dystonia, infantile)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00018)
- Structural context available