A334S (p.Ala334Ser) variant of SLC6A1 (P30531)
A334S (p.Ala334Ser) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of SLC6A1-related neurodevelopmental condition; Epilepsy with myoclonic atonic seiz. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
A334S (p.Ala334Ser) variant details
- p.Ala334Ser
- rs749240316
- ClinGen CA351790601
- ClinVar RCV001759928
- ClinVar RCV004799668
- Conflicting interpretations
- SLC6A1-related neurodevelopmental condition; Epilepsy with myoclonic atonic seiz
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- AlphaMissense 1.00
- MetaLR 0.80
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Conflicting classifications of pathogenicity (SLC6A1-related neurodevelopmental condition; Epilepsy with myocl)
- EBI: Pathogenic (in MAE)
- UniProt: Pathogenic (in MAE)
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)