I125M (p.Ile125Met) variant of NEB (Nebulin)
I125M (p.Ile125Met) in NEB (Nebulin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and population frequency data.
I125M (p.Ile125Met) variant details
- p.Ile125Met
- TOPMed rs753284331
- gnomAD rs753284331
- Likely benign
- Missense
- REVEL 0.18
- MetaLR 0.24
- MetaSVM -0.81
- CADD 23.90
- PolyPhen-2 0.96
- SIFT 0.19
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)