L52P (p.Leu52Pro) variant of NEB (Nebulin)
L52P (p.Leu52Pro) in NEB (Nebulin) is a missense change. The record also includes experimental measurements.
L52P (p.Leu52Pro) variant details
- p.Leu52Pro
- TOPMed rs1349463332
- Missense
- NEB SH3 domain domainome 1.0: score -0.136