K75I (p.Lys75Ile) variant of NEB (Nebulin)
K75I (p.Lys75Ile) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions and population frequency data.
K75I (p.Lys75Ile) variant details
- p.Lys75Ile
- ExAC rs777761921
- gnomAD rs777761921
- Missense
- REVEL 0.23
- MetaLR 0.05
- MetaSVM -1.15
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)