G100W (p.Gly100Trp) variant of DNAH5 (Dynein axonemal heavy chain 5)
G100W (p.Gly100Trp) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G100W (p.Gly100Trp) variant details
- p.Gly100Trp
- ExAC rs764244707
- gnomAD rs764244707
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.15
- MetaLR 0.06
- MetaSVM -1.12
- CADD 24.40
- PolyPhen-2 0.57
- SIFT 0.03
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available