R124T (p.Arg124Thr) variant of NEB (Nebulin)
R124T (p.Arg124Thr) in NEB (Nebulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Nemaline myopathy 2. The record also includes variant effect predictions, population frequency data, and published literature.
R124T (p.Arg124Thr) variant details
- p.Arg124Thr
- rs748303993
- ClinGen CA1911927
- ClinVar RCV003630626
- ExAC rs748303993
- Likely benign
- Nemaline myopathy 2
- Missense
- REVEL 0.39
- MetaLR 0.35
- MetaSVM -0.52
- CADD 23.90
- PolyPhen-2 0.56
- SIFT 0.26
- ClinVar: Likely benign (Nemaline myopathy 2)
- 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)