G307R (p.Gly307Arg) variant of SLC6A1 (P30531)
G307R (p.Gly307Arg) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Epilepsy with myoclonic atonic seizures; Neurodevelopmental disorder; Inborn gen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G307R (p.Gly307Arg) variant details
- p.Gly307Arg
- rs1553689696
- ClinGen CA351790402
- cosmic curated COSV55119
- ClinVar RCV000497644
- Pathogenic/Likely pathogenic
- Epilepsy with myoclonic atonic seizures; Neurodevelopmental disorder; Inborn gen
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.91
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Epilepsy with myoclonic atonic seizures; Neurodevelopmental diso)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)