Q59E (p.Gln59Glu) variant of NEB (Nebulin)
Q59E (p.Gln59Glu) in NEB (Nebulin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions, population frequency data, experimental measurements, and published literature.
Q59E (p.Gln59Glu) variant details
- p.Gln59Glu
- rs867732907
- ClinGen CA348795332
- ClinVar RCV002028768
- Ensembl rs867732907
- Pathogenic
- Missense
- REVEL 0.01
- AlphaMissense 0.07
- MetaLR 0.01
- MetaSVM -0.92
- CADD 0.20
- PolyPhen-2 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00031)
- NEB SH3 domain domainome 1.0: score -0.992
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)