E20V (p.Glu20Val) variant of SLC6A3 (Q01959)
E20V (p.Glu20Val) in SLC6A3 (Q01959) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary ataxia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E20V (p.Glu20Val) variant details
- p.Glu20Val
- ESP rs371649161
- ExAC rs371649161
- TOPMed rs371649161
- gnomAD rs371649161
- Uncertain significance
- Hereditary ataxia
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.15
- MetaLR 0.29
- MetaSVM -0.53
- CADD 22.50
- PolyPhen-2 0.12
- SIFT 0.05
- ClinVar: Uncertain significance (Hereditary ataxia)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available