R79W (p.Arg79Trp) variant of SLC6A4 (P31645)
R79W (p.Arg79Trp) in SLC6A4 (P31645) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
R79W (p.Arg79Trp) variant details
- p.Arg79Trp
- cosmic curated COSV55565
- TOPMed rs1221448303
- gnomAD rs1221448303
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.89
- MetaSVM 0.93
- CADD 29.90
- Most common in the REMAINING population (allele frequency 0.00015)
- Structural context available