G5D (p.Gly5Asp) variant of CHRNA4 (P43681)
G5D (p.Gly5Asp) 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 0.37 / 1. The record also includes population frequency data.
G5D (p.Gly5Asp) variant details
- p.Gly5Asp
- TOPMed rs946142547
- gnomAD rs946142547
- Uncertain significance
- Familial sleep-related hypermotor epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.42
- CADD 19.90
- PolyPhen-2 0.32
- SIFT 0.04
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)