S18G (p.Ser18Gly) variant of SLC6A1 (P30531)
S18G (p.Ser18Gly) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S18G (p.Ser18Gly) variant details
- p.Ser18Gly
- rs935976612
- ClinGen CA70129862
- ClinVar RCV005056180
- TOPMed rs935976612
- Benign
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.14
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.32
- ClinVar: Benign (Epilepsy with myoclonic atonic seizures)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)