Q90E (p.Gln90Glu) variant of NEB (Nebulin)
Q90E (p.Gln90Glu) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions and population frequency data.
Q90E (p.Gln90Glu) variant details
- p.Gln90Glu
- gnomAD rs1313274848
- Missense
- REVEL 0.12
- MetaLR 0.14
- MetaSVM -0.94
- CADD 22.20
- PolyPhen-2 0.28
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)