T109A (p.Thr109Ala) variant of CHRNA4 (P43681)
T109A (p.Thr109Ala) in CHRNA4 (P43681) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Familial sleep-related hypermotor epilepsy; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and published literature.
T109A (p.Thr109Ala) variant details
- p.Thr109Ala
- rs145017594
- ClinGen CA9957869
- ClinVar RCV002467070
- ClinVar RCV005098435
- Uncertain significance
- not provided; Familial sleep-related hypermotor epilepsy; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.50
- CADD 22.10
- PolyPhen-2 0.03
- SIFT 0.11
- ClinVar: Uncertain significance (not provided; Familial sleep-related hypermotor epilepsy; not sp)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 5.1e-05)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)