R44W (p.Arg44Trp) variant of SLC6A1 (P30531)
R44W (p.Arg44Trp) 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; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R44W (p.Arg44Trp) variant details
- p.Arg44Trp
- rs1553687863
- ClinGen CA351788239
- cosmic curated COSV55114
- ClinVar RCV000524089
- Pathogenic/Likely pathogenic
- Epilepsy with myoclonic atonic seizures; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.91
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Epilepsy with myoclonic atonic seizures; Inborn genetic diseases)
- EBI: Pathogenic (in MAE)
- UniProt: Pathogenic (in MAE)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)