K33E (p.Lys33Glu) variant of SLC6A1 (P30531)
K33E (p.Lys33Glu) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Epilepsy with myoclonic atonic seizures; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
K33E (p.Lys33Glu) variant details
- p.Lys33Glu
- rs1334690406
- ClinGen CA351788170
- ClinVar RCV002312450
- ClinVar RCV003128657
- Conflicting interpretations
- Inborn genetic diseases; Epilepsy with myoclonic atonic seizures; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.36
- CADD 21.30
- PolyPhen-2 0.03
- SIFT 0.78
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Epilepsy with myoclonic atonic seizures)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)