A26V (p.Ala26Val) variant of CHRNA4 (P43681)
A26V (p.Ala26Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and published literature.
A26V (p.Ala26Val) variant details
- p.Ala26Val
- rs761362001
- ClinGen CA409644096
- ClinVar RCV000701713
- ClinVar RCV004777847
- Uncertain significance
- Familial sleep-related hypermotor epilepsy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.16
- CADD 0.51
- PolyPhen-2 0.01
- SIFT 0.43
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)