G386R (p.Gly386Arg) variant of SLC6A3 (Q01959)
G386R (p.Gly386Arg) in SLC6A3 (Q01959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Parkinsonism-dystonia, infantile. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
G386R (p.Gly386Arg) variant details
- p.Gly386Arg
- rs2126353885
- ClinGen CA359082706
- ClinVar RCV002927690
- Ensembl rs2126353885
- Likely pathogenic
- Parkinsonism-dystonia, infantile
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- REVEL 0.96
- MetaLR 0.87
- MetaSVM 1.00
- CADD 35.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Parkinsonism-dystonia, infantile)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available