I125L (p.Ile125Leu) variant of NEB (Nebulin)
I125L (p.Ile125Leu) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions and population frequency data.
I125L (p.Ile125Leu) variant details
- p.Ile125Leu
- TOPMed rs1463756656
- gnomAD rs1463756656
- Missense
- REVEL 0.14
- MetaLR 0.12
- MetaSVM -1.02
- CADD 24.40
- PolyPhen-2 0.67
- SIFT 0.68
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)