K127T (p.Lys127Thr) variant of NEB (Nebulin)
K127T (p.Lys127Thr) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions and population frequency data.
K127T (p.Lys127Thr) variant details
- p.Lys127Thr
- gnomAD rs1293094510
- Missense
- REVEL 0.36
- MetaLR 0.33
- MetaSVM -0.43
- CADD 24.60
- PolyPhen-2 0.91
- SIFT 0.10
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)