S89G (p.Ser89Gly) variant of NEB (Nebulin)
S89G (p.Ser89Gly) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions and population frequency data.
S89G (p.Ser89Gly) variant details
- p.Ser89Gly
- gnomAD rs1209969443
- Missense
- REVEL 0.18
- MetaLR 0.19
- MetaSVM -0.79
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.04
- Most common in the Middle Eastern population (allele frequency 0.0007)