G7A (p.Gly7Ala) variant of CHRNA4 (P43681)
G7A (p.Gly7Ala) 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; not provided. 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.
G7A (p.Gly7Ala) variant details
- p.Gly7Ala
- rs1025632281
- ClinGen CA317447573
- ClinVar RCV000811097
- ClinVar RCV001766694
- Uncertain significance
- Familial sleep-related hypermotor epilepsy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.22
- CADD 18.80
- PolyPhen-2 0.96
- SIFT 0.44
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00015)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)