G11R (p.Gly11Arg) variant of SLC6A1 (P30531)
G11R (p.Gly11Arg) 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
G11R (p.Gly11Arg) variant details
- p.Gly11Arg
- rs1264567694
- ClinGen CA351788025
- cosmic curated COSV55116
- ClinVar RCV002320199
- Conflicting interpretations
- Epilepsy with myoclonic atonic seizures; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.44
- CADD 24.90
- PolyPhen-2 0.85
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (Epilepsy with myoclonic atonic seizures; Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- 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)