A51D (p.Ala51Asp) variant of NEB (Nebulin)
A51D (p.Ala51Asp) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions and experimental measurements.
A51D (p.Ala51Asp) variant details
- p.Ala51Asp
- cosmic curated COSV51420
- Missense
- MetaLR 0.01
- MetaSVM -1.00
- SIFT 0.09
- NEB SH3 domain domainome 1.0: score -0.699