K102E (p.Lys102Glu) variant of NEB (Nebulin)
K102E (p.Lys102Glu) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions and population frequency data.
K102E (p.Lys102Glu) variant details
- p.Lys102Glu
- Ensembl rs2150800053
- Missense
- REVEL 0.37
- MetaLR 0.39
- MetaSVM -0.36
- CADD 27.90
- PolyPhen-2 0.43
- SIFT 0.01
- Most common in the 1KG:MSL population (allele frequency 0.013)