A36D (p.Ala36Asp) variant of CHRNA4 (P43681)
A36D (p.Ala36Asp) 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 0.39 / 1. The record also includes published literature.
A36D (p.Ala36Asp) variant details
- p.Ala36Asp
- rs2068775011
- ClinGen CA409643902
- ClinVar RCV001945682
- TOPMed rs2068775011
- Uncertain significance
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- AlphaMissense 0.57
- MetaLR 0.31
- MetaSVM -0.63
- PolyPhen-2 0.06
- SIFT 0.01
- EVE 0.29
- 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)