G25A (p.Gly25Ala) variant of NEB (Nebulin)
G25A (p.Gly25Ala) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions, population frequency data, and experimental measurements.
G25A (p.Gly25Ala) variant details
- p.Gly25Ala
- gnomAD rs2099800858
- Missense
- REVEL 0.05
- MetaLR 0.02
- MetaSVM -0.93
- CADD 22.50
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- NEB SH3 domain domainome 1.0: score -0.164