E43Q (p.Glu43Gln) variant of NEB (Nebulin)
E43Q (p.Glu43Gln) 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.
E43Q (p.Glu43Gln) variant details
- p.Glu43Gln
- rs1578040162
- ClinGen CA348795705
- ClinVar RCV000820458
- Ensembl rs1578040162
- Uncertain significance
- Missense
- REVEL 0.09
- MetaLR 0.02
- MetaSVM -0.92
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- NEB SH3 domain domainome 1.0: score -0.795
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)