E22K (p.Glu22Lys) variant of NEB (Nebulin)
E22K (p.Glu22Lys) 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.
E22K (p.Glu22Lys) variant details
- p.Glu22Lys
- rs2150994058
- ClinGen CA348796879
- cosmic curated COSV99426
- ClinVar RCV001870911
- Uncertain significance
- Missense
- AlphaMissense 0.13
- MetaLR 0.02
- MetaSVM -1.00
- PolyPhen-2 0.08
- SIFT 0.00
- MutPred 0.39
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- NEB SH3 domain domainome 1.0: score -0.0706
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)