T83N (p.Thr83Asn) variant of NEB (Nebulin)
T83N (p.Thr83Asn) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions and population frequency data.
T83N (p.Thr83Asn) variant details
- p.Thr83Asn
- ExAC rs781120429
- gnomAD rs781120429
- Missense
- REVEL 0.32
- MetaLR 0.39
- MetaSVM -0.26
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)