A65E (p.Ala65Glu) variant of SLC6A4 (P31645)
A65E (p.Ala65Glu) in SLC6A4 (P31645) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A65E (p.Ala65Glu) variant details
- p.Ala65Glu
- ESP rs140484986
- ExAC rs140484986
- TOPMed rs140484986
- gnomAD rs140484986
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.26
- MetaSVM -0.84
- CADD 7.58
- Most common in the 1KG:MSL population (allele frequency 0.31)
- Structural context available