K49R (p.Lys49Arg) variant of NEB (Nebulin)
K49R (p.Lys49Arg) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions and experimental measurements.
K49R (p.Lys49Arg) variant details
- p.Lys49Arg
- cosmic curated COSV50861
- Missense
- MetaLR 0.01
- MetaSVM -0.95
- SIFT 0.05
- NEB SH3 domain domainome 1.0: score -0.768