K48N (p.Lys48Asn) variant of SLC6A1 (P30531)
K48N (p.Lys48Asn) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
K48N (p.Lys48Asn) variant details
- p.Lys48Asn
- rs751216831
- ClinGen CA351788270
- ClinVar RCV005062991
- ClinGen CA2254792
- Uncertain significance
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.17
- CADD 22.70
- PolyPhen-2 0.53
- SIFT 0.49
- ClinVar: Uncertain significance (Epilepsy with myoclonic atonic seizures)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 4.8e-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)