D125E (p.Asp125Glu) variant of SLC22A6 (Q4U2R8)
D125E (p.Asp125Glu) in SLC22A6 (Q4U2R8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
D125E (p.Asp125Glu) variant details
- p.Asp125Glu
- ExAC rs764026395
- TOPMed rs764026395
- gnomAD rs764026395
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.50
- MetaLR 0.66
- MetaSVM 0.56
- CADD 25.20
- PolyPhen-2 0.78
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available