L52V (p.Leu52Val) variant of NEB (Nebulin)
L52V (p.Leu52Val) in NEB (Nebulin) is a missense change. The record also includes experimental measurements.
L52V (p.Leu52Val) variant details
- p.Leu52Val
- cosmic curated COSV99429
- TOPMed rs2099795688
- Missense
- NEB SH3 domain domainome 1.0: score -0.136