D43N (p.Asp43Asn) variant of SLC6A1 (P30531)
D43N (p.Asp43Asn) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Epilepsy with myoclonic atonic seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
D43N (p.Asp43Asn) variant details
- p.Asp43Asn
- rs764382700
- ClinGen CA2254788
- NCI-TCGA Cosmic COSV5511
- cosmic curated COSV55114
- Likely benign
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.29
- CADD 23.90
- PolyPhen-2 0.44
- SIFT 0.01
- ClinVar: Likely benign (Epilepsy with myoclonic atonic seizures)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)