Q59H (p.Gln59His) variant of NEB (Nebulin)
Q59H (p.Gln59His) in NEB (Nebulin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, population frequency data, experimental measurements, and published literature.
Q59H (p.Gln59His) variant details
- p.Gln59His
- rs200990309
- ClinGen CA348795308
- ClinVar RCV001973778
- 1000Genomes rs200990309
- Uncertain significance
- Missense
- AlphaMissense 0.15
- MetaLR 0.01
- MetaSVM -0.95
- PolyPhen-2 0.45
- SIFT 0.07
- MutPred 0.24
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- NEB SH3 domain domainome 1.0: score -0.992
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)