M82T (p.Met82Thr) variant of CHRNA4 (P43681)
M82T (p.Met82Thr) in CHRNA4 (P43681) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal dominant nocturnal frontal lobe epilepsy 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature.
M82T (p.Met82Thr) variant details
- p.Met82Thr
- rs2068719750
- ClinGen CA409641490
- ClinVar RCV001265534
- ClinVar RCV006250995
- Uncertain significance
- Autosomal dominant nocturnal frontal lobe epilepsy 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- AlphaMissense 0.78
- MetaLR 0.19
- MetaSVM -0.60
- PolyPhen-2 0.67
- SIFT 0.01
- EVE 0.40
- ClinVar: Uncertain significance (Autosomal dominant nocturnal frontal lobe epilepsy 1; not provid)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)