E103K (p.Glu103Lys) variant of NEB (Nebulin)
E103K (p.Glu103Lys) in NEB (Nebulin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes variant effect predictions and population frequency data.
E103K (p.Glu103Lys) variant details
- p.Glu103Lys
- ESP rs372579696
- ExAC rs372579696
- TOPMed rs372579696
- gnomAD rs372579696
- Benign
- Missense
- REVEL 0.05
- MetaLR 0.14
- MetaSVM -1.00
- CADD 19.10
- PolyPhen-2 0.02
- SIFT 0.27
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:MSL population (allele frequency 0.013)