D40N (p.Asp40Asn) variant of SLC6A1 (P30531)
D40N (p.Asp40Asn) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
D40N (p.Asp40Asn) variant details
- p.Asp40Asn
- rs1353258550
- ClinGen CA351788213
- cosmic curated COSV55113
- ClinVar RCV005062999
- Uncertain significance
- Epilepsy with myoclonic atonic seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.17
- CADD 21.10
- PolyPhen-2 0.03
- SIFT 0.22
- ClinVar: Uncertain significance (Epilepsy with myoclonic atonic seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)