G67D (p.Gly67Asp) variant of CHRNA4 (P43681)
G67D (p.Gly67Asp) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature.
G67D (p.Gly67Asp) variant details
- p.Gly67Asp
- rs1568819500
- ClinGen CA409643220
- ClinVar RCV001862058
- ClinVar RCV002318619
- Uncertain significance
- Familial sleep-related hypermotor epilepsy; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- AlphaMissense 0.89
- MetaLR 0.55
- MetaSVM 0.06
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.42
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy; Inborn genetic disea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)