Q106R (p.Gln106Arg) variant of SLC6A1 (P30531)
Q106R (p.Gln106Arg) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Epilepsy with myoclonic atonic seizures; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
Q106R (p.Gln106Arg) variant details
- p.Gln106Arg
- rs1064795290
- ClinGen CA16617797
- ClinVar RCV000481964
- ClinVar RCV003444551
- Likely pathogenic
- Epilepsy with myoclonic atonic seizures; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- AlphaMissense 0.99
- MetaLR 0.65
- MetaSVM 0.50
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.68
- ClinVar: Likely pathogenic (Epilepsy with myoclonic atonic seizures; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)