D130E (p.Asp130Glu) variant of NEB (Nebulin)
D130E (p.Asp130Glu) 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, and published literature.
D130E (p.Asp130Glu) variant details
- p.Asp130Glu
- rs2099787749
- ClinGen CA348793363
- ClinVar RCV001298877
- TOPMed rs2099787749
- Uncertain significance
- Missense
- REVEL 0.10
- MetaLR 0.04
- MetaSVM -1.04
- CADD 22.90
- PolyPhen-2 0.11
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)