D4G (p.Asp4Gly) variant of NEB (Nebulin)
D4G (p.Asp4Gly) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions, population frequency data, and experimental measurements.
D4G (p.Asp4Gly) variant details
- p.Asp4Gly
- gnomAD rs2099813095
- Missense
- REVEL 0.04
- MetaLR 0.01
- MetaSVM -0.99
- CADD 24.10
- PolyPhen-2 0.10
- SIFT 0.02
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- NEB SH3 domain domainome 1.0: score -0.886