P27S (p.Pro27Ser) variant of SLC6A1 (P30531)
P27S (p.Pro27Ser) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Epilepsy with myoclonic atonic seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P27S (p.Pro27Ser) variant details
- p.Pro27Ser
- rs1395387100
- ClinGen CA351788131
- ClinVar RCV005057934
- gnomAD rs1395387100
- Uncertain significance
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- AlphaMissense 0.28
- MetaLR 0.17
- MetaSVM -0.76
- PolyPhen-2 0.80
- SIFT 0.18
- MutPred 0.35
- ClinVar: Uncertain significance (Epilepsy with myoclonic atonic seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)