M1T (p.Met1Thr) variant of CHRNA4 (P43681)
M1T (p.Met1Thr) 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; CHRNA4-related disorder; not provide. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and published literature.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs2068814460
- ClinGen CA409645100
- ClinVar RCV001822062
- ClinVar RCV001869649
- Uncertain significance
- Familial sleep-related hypermotor epilepsy; CHRNA4-related disorder; not provide
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- MetaLR 0.28
- MetaSVM -0.73
- PolyPhen-2 0.02
- SIFT 0.00
- MutPred 0.94
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy; CHRNA4-related disor)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)