D86V (p.Asp86Val) variant of DNAH5 (Dynein axonemal heavy chain 5)
D86V (p.Asp86Val) 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 0.31 / 1. The record also includes population frequency data and structural context.
D86V (p.Asp86Val) variant details
- p.Asp86Val
- ESP rs147441805
- ExAC rs147441805
- TOPMed rs147441805
- gnomAD rs147441805
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.20
- MetaLR 0.08
- MetaSVM -1.07
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available