D45N (p.Asp45Asn) variant of SLC6A1 (P30531)
D45N (p.Asp45Asn) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Epilepsy with myoclonic atonic seizures; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
D45N (p.Asp45Asn) variant details
- p.Asp45Asn
- NCI-TCGA TCGA novel
- Conflicting interpretations
- Epilepsy with myoclonic atonic seizures; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.39
- CADD 24.80
- PolyPhen-2 0.35
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Epilepsy with myoclonic atonic seizures; not provided)
- UniProt: Conflicting interpretations
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available