D52E (p.Asp52Glu) variant of SLC6A1 (P30531)
D52E (p.Asp52Glu) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes structural context.
D52E (p.Asp52Glu) variant details
- p.Asp52Glu
- rs1697195588
- ClinGen CA351788296
- ClinVar RCV001268605
- Ensembl rs1697195588
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- AlphaMissense 0.95
- MetaLR 0.18
- MetaSVM -0.96
- PolyPhen-2 0.17
- SIFT 0.73
- EVE 0.12
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available