A90V (p.Ala90Val) variant of DNAH5 (Dynein axonemal heavy chain 5)
A90V (p.Ala90Val) 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 0.18 / 1. The record also includes population frequency data and structural context.
A90V (p.Ala90Val) variant details
- p.Ala90Val
- ExAC rs758559495
- TOPMed rs758559495
- gnomAD rs758559495
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.04
- MetaLR 0.05
- MetaSVM -1.03
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.40
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available