R69K (p.Arg69Lys) variant of NEB (Nebulin)
R69K (p.Arg69Lys) in NEB (Nebulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Nemaline myopathy 2. The record also includes variant effect predictions, population frequency data, and published literature.
R69K (p.Arg69Lys) variant details
- p.Arg69Lys
- rs1299743556
- ClinGen CA348795137
- ClinVar RCV003860906
- ClinVar RCV004784191
- Conflicting interpretations
- not provided; Nemaline myopathy 2
- Missense
- REVEL 0.06
- MetaLR 0.01
- MetaSVM -0.95
- CADD 6.87
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Nemaline myopathy 2)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)