I126S (p.Ile126Ser) variant of SLC6A4 (P31645)
I126S (p.Ile126Ser) in SLC6A4 (P31645) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
I126S (p.Ile126Ser) variant details
- p.Ile126Ser
- TOPMed rs1435297805
- gnomAD rs1435297805
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.38
- MetaLR 0.65
- MetaSVM 0.40
- CADD 28.50
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available