A14E (p.Ala14Glu) variant of SLC6A4 (P31645)
A14E (p.Ala14Glu) in SLC6A4 (P31645) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A14E (p.Ala14Glu) variant details
- p.Ala14Glu
- ExAC rs763069645
- TOPMed rs763069645
- gnomAD rs763069645
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.15
- MetaSVM -0.89
- CADD 0.24
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.7e-05)
- Structural context available