G5S (p.Gly5Ser) variant of SLC6A1 (P30531)
G5S (p.Gly5Ser) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G5S (p.Gly5Ser) variant details
- p.Gly5Ser
- rs551940721
- ClinGen CA2254772
- ClinVar RCV004673737
- ClinVar RCV005059084
- Conflicting interpretations
- Epilepsy with myoclonic atonic seizures; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.25
- CADD 19.40
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Conflicting classifications of pathogenicity (Epilepsy with myoclonic atonic seizures; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00015)
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)