F51Y (p.Phe51Tyr) variant of SLC6A1 (P30531)
F51Y (p.Phe51Tyr) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Epilepsy with myoclonic atonic seizures; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
F51Y (p.Phe51Tyr) variant details
- p.Phe51Tyr
- rs1553687887
- ClinGen CA351788284
- ClinVar RCV003444580
- ClinVar RCV005231070
- Conflicting interpretations
- Epilepsy with myoclonic atonic seizures; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- AlphaMissense 0.36
- MetaLR 0.30
- MetaSVM -0.55
- PolyPhen-2 0.02
- SIFT 0.04
- EVE 0.23
- ClinVar: Conflicting classifications of pathogenicity (Epilepsy with myoclonic atonic seizures; not provided)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)