I86V (p.Ile86Val) variant of NEB (Nebulin)
I86V (p.Ile86Val) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions and population frequency data.
I86V (p.Ile86Val) variant details
- p.Ile86Val
- gnomAD rs1251337477
- Missense
- REVEL 0.15
- MetaLR 0.15
- MetaSVM -0.94
- CADD 20.90
- PolyPhen-2 0.34
- SIFT 0.21
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)