A57D (p.Ala57Asp) variant of SLC6A3 (Q01959)
A57D (p.Ala57Asp) in SLC6A3 (Q01959) 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 0.18 / 1. The record also includes population frequency data and structural context.
A57D (p.Ala57Asp) variant details
- p.Ala57Asp
- ExAC rs766786798
- TOPMed rs766786798
- gnomAD rs766786798
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.07
- MetaLR 0.16
- MetaSVM -0.98
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 0.65
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available