D120G (p.Asp120Gly) variant of DNAH5 (Dynein axonemal heavy chain 5)
D120G (p.Asp120Gly) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
D120G (p.Asp120Gly) variant details
- p.Asp120Gly
- ExAC rs772050000
- TOPMed rs772050000
- gnomAD rs772050000
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.20
- MetaLR 0.08
- MetaSVM -1.08
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.05
- Population evidence available
- Structural context available