D94Y (p.Asp94Tyr) variant of NEB (Nebulin)
D94Y (p.Asp94Tyr) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions and population frequency data.
D94Y (p.Asp94Tyr) variant details
- p.Asp94Tyr
- TOPMed rs1355425394
- gnomAD rs1355425394
- Missense
- REVEL 0.26
- MetaLR 0.17
- MetaSVM -0.84
- CADD 21.20
- PolyPhen-2 0.89
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)