F114S (p.Phe114Ser) variant of DNAH5 (Dynein axonemal heavy chain 5)
F114S (p.Phe114Ser) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
F114S (p.Phe114Ser) variant details
- p.Phe114Ser
- TOPMed rs1222532400
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.26
- MetaLR 0.08
- MetaSVM -1.04
- CADD 24.50
- PolyPhen-2 0.07
- SIFT 0.00
- Population evidence available
- Structural context available