R85W (p.Arg85Trp) variant of SLC6A3 (Q01959)
R85W (p.Arg85Trp) in SLC6A3 (Q01959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
R85W (p.Arg85Trp) variant details
- p.Arg85Trp
- rs1064795122
- ClinGen CA16618134
- ClinVar RCV000480943
- Ensembl rs1064795122
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.89
- MetaLR 0.84
- MetaSVM 0.81
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:RUSSIAN population (allele frequency 0.02)
- Structural context available