G5V (p.Gly5Val) variant of CHRNA4 (P43681)
G5V (p.Gly5Val) 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 0.32 / 1. The record also includes population frequency data and published literature.
G5V (p.Gly5Val) variant details
- p.Gly5Val
- rs946142547
- ClinGen CA317447591
- ClinVar RCV001348152
- ClinVar RCV004968099
- Uncertain significance
- Familial sleep-related hypermotor epilepsy; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.35
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy; Inborn genetic disea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- 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)