R123H (p.Arg123His) variant of NEB (Nebulin)
R123H (p.Arg123His) 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, population frequency data, and published literature.
R123H (p.Arg123His) variant details
- p.Arg123His
- rs546250852
- ClinGen CA1911928
- ClinVar RCV000823845
- ClinVar RCV005250122
- Likely benign
- Missense
- REVEL 0.25
- MetaLR 0.30
- MetaSVM -0.68
- CADD 24.60
- PolyPhen-2 0.97
- SIFT 0.13
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)