D101N (p.Asp101Asn) variant of CHRNA4 (P43681)
D101N (p.Asp101Asn) in CHRNA4 (P43681) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial sleep-related hypermotor epilepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and published literature.
D101N (p.Asp101Asn) variant details
- p.Asp101Asn
- rs1427242612
- ClinGen CA409641349
- ClinVar RCV000794716
- TOPMed rs1427242612
- Uncertain significance
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.12
- CADD 19.00
- PolyPhen-2 0.03
- SIFT 1.00
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)