I4V (p.Ile4Val) variant of DNAH5 (Dynein axonemal heavy chain 5)
I4V (p.Ile4Val) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
I4V (p.Ile4Val) variant details
- p.Ile4Val
- TOPMed rs1310540453
- gnomAD rs1310540453
- Missense
- Variant Prioritization Score for Impact Estimate 0.075
- REVEL 0.02
- MetaLR 0.03
- MetaSVM -0.99
- CADD 0.31
- PolyPhen-2 0.00
- SIFT 0.50
- Population evidence available
- Structural context available