R73W (p.Arg73Trp) variant of NEB (Nebulin)
R73W (p.Arg73Trp) 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.
R73W (p.Arg73Trp) variant details
- p.Arg73Trp
- rs77994592
- ClinGen CA1911974
- ClinVar RCV000536943
- ClinVar RCV001199841
- Likely benign
- Missense
- REVEL 0.15
- MetaLR 0.02
- MetaSVM -1.00
- CADD 25.30
- PolyPhen-2 0.98
- SIFT 0.04
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)