A71T (p.Ala71Thr) variant of CHRNA4 (P43681)
A71T (p.Ala71Thr) in CHRNA4 (P43681) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Familial sleep-related hypermotor epilepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and published literature.
A71T (p.Ala71Thr) variant details
- p.Ala71Thr
- rs200527878
- ClinGen CA9957943
- ClinVar RCV000549537
- 1000Genomes rs200527878
- Likely benign
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.49
- CADD 23.70
- PolyPhen-2 0.53
- SIFT 0.31
- ClinVar: Likely benign (Familial sleep-related hypermotor epilepsy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)