A57V (p.Ala57Val) variant of SLC6A3 (Q01959)
A57V (p.Ala57Val) in SLC6A3 (Q01959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
A57V (p.Ala57Val) variant details
- p.Ala57Val
- rs766786798
- ClinGen CA3186462
- ClinVar RCV000594747
- ExAC rs766786798
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.08
- MetaLR 0.17
- MetaSVM -0.97
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available