D4E (p.Asp4Glu) variant of NEB (Nebulin)
D4E (p.Asp4Glu) in NEB (Nebulin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes variant effect predictions, population frequency data, and experimental measurements.
D4E (p.Asp4Glu) variant details
- p.Asp4Glu
- rs117178114
- ClinGen CA348797759
- ClinVar RCV001754166
- 1000Genomes rs117178114
- Benign
- Missense
- REVEL 0.08
- MetaLR 0.01
- MetaSVM -0.90
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.16
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00041)
- NEB SH3 domain domainome 1.0: score -0.886