D6Y (p.Asp6Tyr) variant of NEB (Nebulin)
D6Y (p.Asp6Tyr) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions, population frequency data, and experimental measurements.
D6Y (p.Asp6Tyr) variant details
- p.Asp6Tyr
- cosmic curated COSV51451
- Missense
- REVEL 0.13
- MetaLR 0.01
- MetaSVM -0.90
- CADD 26.60
- PolyPhen-2 0.41
- SIFT 0.01
- Population evidence available
- NEB SH3 domain domainome 1.0: score -0.594