A2V (p.Ala2Val) variant of SLC6A1 (P30531)
A2V (p.Ala2Val) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Epilepsy with myoclonic atonic seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs913073947
- ClinGen CA351787971
- cosmic curated COSV10809
- ClinVar RCV005059149
- Likely benign
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.29
- CADD 25.40
- PolyPhen-2 0.59
- SIFT 0.01
- ClinVar: Likely benign (Epilepsy with myoclonic atonic seizures)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)