R79L (p.Arg79Leu) variant of SLC6A4 (P31645)
R79L (p.Arg79Leu) in SLC6A4 (P31645) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
R79L (p.Arg79Leu) variant details
- p.Arg79Leu
- cosmic curated COSV55567
- ExAC rs760517433
- TOPMed rs760517433
- gnomAD rs760517433
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.90
- MetaSVM 1.06
- CADD 26.90
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available