R50C (p.Arg50Cys) variant of SLC6A1 (P30531)
R50C (p.Arg50Cys) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R50C (p.Arg50Cys) variant details
- p.Arg50Cys
- rs754493263
- ClinGen CA2254793
- NCI-TCGA Cosmic COSV9982
- cosmic curated COSV99822
- Conflicting interpretations
- Epilepsy with myoclonic atonic seizures; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.72
- CADD 28.60
- PolyPhen-2 0.73
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Epilepsy with myoclonic atonic seizures; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)