A71V (p.Ala71Val) variant of CHRNA4 (P43681)
A71V (p.Ala71Val) 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 0.72 / 1. The record also includes population frequency data and published literature.
A71V (p.Ala71Val) variant details
- p.Ala71Val
- rs753677594
- ClinGen CA9957942
- ClinVar RCV000498928
- ClinVar RCV001053897
- Uncertain significance
- Familial sleep-related hypermotor epilepsy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.70
- CADD 25.80
- PolyPhen-2 0.52
- SIFT 0.00
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)