A39T (p.Ala39Thr) variant of SLC6A1 (P30531)
A39T (p.Ala39Thr) 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 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A39T (p.Ala39Thr) variant details
- p.Ala39Thr
- rs866130390
- ClinGen CA70129914
- ClinVar RCV005057728
- TOPMed rs866130390
- Benign
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.09
- CADD 10.70
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Benign (Epilepsy with myoclonic atonic seizures)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)