D52V (p.Asp52Val) variant of SLC6A1 (P30531)
D52V (p.Asp52Val) 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 0.69 / 1. The record also includes structural context.
D52V (p.Asp52Val) variant details
- p.Asp52Val
- rs1697195476
- ClinGen CA351788294
- ClinVar RCV001268604
- Ensembl rs1697195476
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- AlphaMissense 1.00
- MetaLR 0.64
- MetaSVM 0.51
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.60
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available