A35E (p.Ala35Glu) variant of DNAH5 (Dynein axonemal heavy chain 5)
A35E (p.Ala35Glu) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A35E (p.Ala35Glu) variant details
- p.Ala35Glu
- ESP rs371414060
- ExAC rs371414060
- TOPMed rs371414060
- gnomAD rs371414060
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.06
- MetaLR 0.04
- MetaSVM -1.03
- CADD 6.83
- PolyPhen-2 0.01
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available