E20A (p.Glu20Ala) variant of SLC6A3 (Q01959)
E20A (p.Glu20Ala) in SLC6A3 (Q01959) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
E20A (p.Glu20Ala) variant details
- p.Glu20Ala
- ESP rs371649161
- ExAC rs371649161
- TOPMed rs371649161
- gnomAD rs371649161
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.10
- MetaLR 0.31
- MetaSVM -0.54
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available