M1L (p.Met1Leu) variant of CHRNA4 (P43681)
M1L (p.Met1Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs1359272155
- ClinGen CA409645106
- ClinVar RCV001937202
- Uncertain significance
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- MetaLR 0.24
- MetaSVM -0.80
- PolyPhen-2 0.00
- SIFT 0.01
- MutPred 0.87
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)