D52N (p.Asp52Asn) variant of SLC6A1 (P30531)
D52N (p.Asp52Asn) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes structural context.
D52N (p.Asp52Asn) variant details
- p.Asp52Asn
- rs1574891085
- ClinGen CA351788289
- ClinVar RCV002469529
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- AlphaMissense 0.99
- MetaLR 0.69
- MetaSVM 0.67
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available