L30F (p.Leu30Phe) variant of SLC6A1 (P30531)
L30F (p.Leu30Phe) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L30F (p.Leu30Phe) variant details
- p.Leu30Phe
- rs1271404941
- ClinGen CA351788155
- ClinVar RCV001754757
- ClinVar RCV005057583
- Uncertain significance
- Epilepsy with myoclonic atonic seizures; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.33
- CADD 22.90
- PolyPhen-2 0.46
- SIFT 0.07
- ClinVar: Uncertain significance (Epilepsy with myoclonic atonic seizures; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)