D77N (p.Asp77Asn) variant of CHRNA4 (P43681)
D77N (p.Asp77Asn) 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 0.58 / 1. The record also includes population frequency data and published literature.
D77N (p.Asp77Asn) variant details
- p.Asp77Asn
- rs1204737071
- ClinGen CA409641533
- ClinVar RCV000691999
- TOPMed rs1204737071
- Uncertain significance
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.47
- CADD 25.30
- PolyPhen-2 0.19
- SIFT 0.00
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)