T108K (p.Thr108Lys) variant of NEB (Nebulin)
T108K (p.Thr108Lys) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions and population frequency data.
T108K (p.Thr108Lys) variant details
- p.Thr108Lys
- TOPMed rs75333635
- gnomAD rs75333635
- Missense
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -1.07
- CADD 19.20
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)