R60W (p.Arg60Trp) variant of SLC6A4 (P31645)
R60W (p.Arg60Trp) in SLC6A4 (P31645) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Behavior disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R60W (p.Arg60Trp) variant details
- p.Arg60Trp
- rs754635080
- ClinGen CA8480486
- ClinVar RCV001126930
- ExAC rs754635080
- Uncertain significance
- Behavior disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.11
- ESM-1b 0.02
- AlphaMissense 0.10
- MetaLR 0.09
- MetaSVM -0.99
- CADD 16.80
- ClinVar: Uncertain significance (Behavior disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available