A61G (p.Ala61Gly) variant of NEB (Nebulin)
A61G (p.Ala61Gly) 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, experimental measurements, and published literature.
A61G (p.Ala61Gly) variant details
- p.Ala61Gly
- rs2099795617
- ClinGen CA348795281
- ClinVar RCV001920944
- TOPMed rs2099795617
- Uncertain significance
- Missense
- AlphaMissense 0.10
- MetaLR 0.01
- MetaSVM -0.94
- PolyPhen-2 0.02
- SIFT 0.26
- MutPred 0.32
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- NEB SH3 domain domainome 1.0: score -0.207
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)