R79Q (p.Arg79Gln) variant of SLC6A4 (P31645)
R79Q (p.Arg79Gln) in SLC6A4 (P31645) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
R79Q (p.Arg79Gln) variant details
- p.Arg79Gln
- ExAC rs760517433
- TOPMed rs760517433
- gnomAD rs760517433
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.43
- MetaLR 0.23
- MetaSVM -0.79
- CADD 27.40
- Most common in the 1KG:MSL population (allele frequency 0.31)
- Structural context available