E43D (p.Glu43Asp) variant of NEB (Nebulin)
E43D (p.Glu43Asp) in NEB (Nebulin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions, population frequency data, experimental measurements, and published literature.
E43D (p.Glu43Asp) variant details
- p.Glu43Asp
- rs1290183134
- ClinGen CA348795690
- ClinVar RCV001918293
- TOPMed rs1290183134
- Likely benign
- Missense
- REVEL 0.09
- MetaLR 0.01
- MetaSVM -1.02
- CADD 8.69
- PolyPhen-2 0.00
- SIFT 0.15
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00041)
- NEB SH3 domain domainome 1.0: score -0.795
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)