G63S (p.Gly63Ser) variant of SLC6A1 (P30531)
G63S (p.Gly63Ser) 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 0.86 / 1. The record also includes published literature and structural context.
G63S (p.Gly63Ser) variant details
- p.Gly63Ser
- rs1057523845
- ClinGen CA16604788
- cosmic curated COSV10585
- ClinVar RCV000422208
- Conflicting interpretations
- Epilepsy with myoclonic atonic seizures; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- AlphaMissense 0.99
- MetaLR 0.85
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Conflicting classifications of pathogenicity (Epilepsy with myoclonic atonic seizures; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)