G110E (p.Gly110Glu) variant of NEB (Nebulin)
G110E (p.Gly110Glu) in NEB (Nebulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes variant effect predictions and population frequency data.
G110E (p.Gly110Glu) variant details
- p.Gly110Glu
- ExAC rs761337214
- TOPMed rs761337214
- gnomAD rs761337214
- Uncertain significance
- Inborn genetic diseases
- Missense
- REVEL 0.35
- MetaLR 0.38
- MetaSVM -0.39
- CADD 25.90
- PolyPhen-2 0.89
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)