D60E (p.Asp60Glu) variant of CHRNA4 (P43681)
D60E (p.Asp60Glu) 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 0.18 / 1. The record also includes population frequency data and published literature.
D60E (p.Asp60Glu) variant details
- p.Asp60Glu
- rs112051150
- ClinGen CA9957954
- ClinVar RCV000534619
- ExAC rs112051150
- Uncertain significance
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.22
- CADD 6.63
- PolyPhen-2 0.64
- SIFT 0.06
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.5e-05)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)