R51W (p.Arg51Trp) variant of SLC6A3 (Q01959)
R51W (p.Arg51Trp) 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 0.35 / 1. The record also includes population frequency data and structural context.
R51W (p.Arg51Trp) variant details
- p.Arg51Trp
- rs778617693
- ClinGen CA3186471
- ClinVar RCV001346076
- ExAC rs778617693
- Uncertain significance
- Parkinsonism-dystonia, infantile
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.11
- MetaLR 0.15
- MetaSVM -0.93
- CADD 15.60
- PolyPhen-2 0.22
- SIFT 0.03
- ClinVar: Uncertain significance (Parkinsonism-dystonia, infantile)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available