R50H (p.Arg50His) variant of SLC6A1 (P30531)
R50H (p.Arg50His) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Epilepsy with myoclonic atonic seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R50H (p.Arg50His) variant details
- p.Arg50His
- rs766945941
- ClinGen CA2254794
- cosmic curated COSV10515
- ClinVar RCV005057090
- Benign
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.34
- AlphaMissense 0.30
- MetaLR 0.33
- MetaSVM -0.46
- CADD 24.10
- PolyPhen-2 0.01
- ClinVar: Benign (Epilepsy with myoclonic atonic seizures)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)