R60W (p.Arg60Trp) variant of SLC6A3 (Q01959)
R60W (p.Arg60Trp) in SLC6A3 (Q01959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Parkinsonism-dystonia, infantile; Classic dopamine transporter deficiency syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R60W (p.Arg60Trp) variant details
- p.Arg60Trp
- rs1579729357
- ClinGen CA359064601
- ClinVar RCV000995647
- ClinVar RCV001858818
- Conflicting interpretations
- Parkinsonism-dystonia, infantile; Classic dopamine transporter deficiency syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.76
- MetaLR 0.89
- MetaSVM 0.95
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Parkinsonism-dystonia, infantile; Classic dopamine transporter d)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: SLC6A3-Related Dopamine Transporter Deficiency Syndrome. (PMID 28749637)