L54F (p.Leu54Phe) variant of SLC6A1 (P30531)
L54F (p.Leu54Phe) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Epilepsy with myoclonic atonic seizures; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
L54F (p.Leu54Phe) variant details
- p.Leu54Phe
- rs1017069383
- ClinGen CA70129977
- ClinVar RCV002394814
- ClinVar RCV005058657
- Conflicting interpretations
- Epilepsy with myoclonic atonic seizures; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.63
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Epilepsy with myoclonic atonic seizures; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)