T116A (p.Thr116Ala) variant of NEB (Nebulin)
T116A (p.Thr116Ala) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions and population frequency data.
T116A (p.Thr116Ala) variant details
- p.Thr116Ala
- Ensembl rs906530273
- Missense
- REVEL 0.13
- MetaLR 0.02
- MetaSVM -1.03
- CADD 23.30
- PolyPhen-2 0.66
- SIFT 0.55
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)