C147Y (p.Cys147Tyr) variant of SLC6A4 (P31645)
C147Y (p.Cys147Tyr) 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.
C147Y (p.Cys147Tyr) variant details
- p.Cys147Tyr
- TOPMed rs1294341765
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.66
- MetaSVM 0.46
- CADD 26.40
- Most common in the 1KG:MSL population (allele frequency 0.31)
- Structural context available