T32N (p.Thr32Asn) variant of CHRNA4 (P43681)
T32N (p.Thr32Asn) 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 0.22 / 1. The record also includes population frequency data and published literature.
T32N (p.Thr32Asn) variant details
- p.Thr32Asn
- rs200601170
- ClinGen CA9957975
- ClinVar RCV001489590
- 1000Genomes rs200601170
- Likely benign
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.05
- CADD 23.40
- PolyPhen-2 0.05
- SIFT 0.03
- ClinVar: Likely benign (Familial sleep-related hypermotor epilepsy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)