E43V (p.Glu43Val) variant of NEB (Nebulin)
E43V (p.Glu43Val) 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 experimental measurements.
E43V (p.Glu43Val) variant details
- p.Glu43Val
- ExAC rs752660824
- TOPMed rs752660824
- gnomAD rs752660824
- Uncertain significance
- Missense
- REVEL 0.03
- MetaLR 0.01
- MetaSVM -1.01
- CADD 21.60
- PolyPhen-2 0.09
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- NEB SH3 domain domainome 1.0: score -0.795