R85Q (p.Arg85Gln) variant of SLC6A3 (Q01959)
R85Q (p.Arg85Gln) in SLC6A3 (Q01959) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
R85Q (p.Arg85Gln) variant details
- p.Arg85Gln
- rs773452048
- NCI-TCGA Cosmic COSV5437
- ExAC rs773452048
- TOPMed rs773452048
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.95
- MetaLR 0.83
- MetaSVM 0.95
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available