K75R (p.Lys75Arg) variant of NEB (Nebulin)
K75R (p.Lys75Arg) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions and population frequency data.
K75R (p.Lys75Arg) variant details
- p.Lys75Arg
- ExAC rs777761921
- gnomAD rs777761921
- Missense
- REVEL 0.16
- MetaLR 0.04
- MetaSVM -1.12
- CADD 21.50
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00015)