A20V (p.Ala20Val) variant of SLC6A1 (P30531)
A20V (p.Ala20Val) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Epilepsy with myoclonic atonic seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- rs2470187806
- ClinGen CA351788088
- ClinVar RCV005059119
- Uncertain significance
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.15
- CADD 16.80
- PolyPhen-2 0.01
- SIFT 0.41
- ClinVar: Uncertain significance (Epilepsy with myoclonic atonic seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)