R38M (p.Arg38Met) variant of NEB (Nebulin)
R38M (p.Arg38Met) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions, population frequency data, and experimental measurements.
R38M (p.Arg38Met) variant details
- p.Arg38Met
- TOPMed rs2099795771
- gnomAD rs2099795771
- Missense
- REVEL 0.05
- MetaLR 0.01
- MetaSVM -0.93
- CADD 23.30
- PolyPhen-2 0.44
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- NEB SH3 domain domainome 1.0: score 0.0672