D118A (p.Asp118Ala) variant of NEB (Nebulin)
D118A (p.Asp118Ala) in NEB (Nebulin) is a missense change. The record also includes variant effect predictions and population frequency data.
D118A (p.Asp118Ala) variant details
- p.Asp118Ala
- gnomAD rs1317101878
- Missense
- REVEL 0.58
- MetaLR 0.45
- MetaSVM -0.13
- CADD 28.00
- PolyPhen-2 0.37
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)