D3G (p.Asp3Gly) variant of NEB (Nebulin)
D3G (p.Asp3Gly) 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.
D3G (p.Asp3Gly) variant details
- p.Asp3Gly
- rs1245236784
- ClinGen CA348797795
- ClinVar RCV001323594
- ClinVar RCV001815998
- Uncertain significance
- Missense
- REVEL 0.67
- MetaLR 0.02
- MetaSVM -0.99
- CADD 26.50
- PolyPhen-2 0.23
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- NEB SH3 domain domainome 1.0: score -0.384
- Cited in: Clinical utility gene card for: nemaline myopathy. (PMID 22510848)