M92V (p.Met92Val) variant of NEB (Nebulin)
M92V (p.Met92Val) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions and population frequency data.
M92V (p.Met92Val) variant details
- p.Met92Val
- TOPMed rs1251772683
- Missense
- REVEL 0.15
- MetaLR 0.13
- MetaSVM -0.99
- CADD 23.10
- PolyPhen-2 0.97
- SIFT 0.21
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)