S14P (p.Ser14Pro) variant of SLC6A1 (P30531)
S14P (p.Ser14Pro) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Epilepsy with myoclonic atonic seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
S14P (p.Ser14Pro) variant details
- p.Ser14Pro
- rs1697187552
- ClinGen CA351788046
- ClinVar RCV005057249
- Ensembl rs1697187552
- Benign
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- AlphaMissense 0.09
- MetaLR 0.16
- MetaSVM -1.02
- PolyPhen-2 0.00
- SIFT 0.18
- MutPred 0.15
- ClinVar: Benign (Epilepsy with myoclonic atonic seizures)
- EBI: Benign
- UniProt: Benign
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)