F114L (p.Phe114Leu) variant of DNAH5 (Dynein axonemal heavy chain 5)
F114L (p.Phe114Leu) 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 0.34 / 1. The record also includes population frequency data and structural context.
F114L (p.Phe114Leu) variant details
- p.Phe114Leu
- 1000Genomes rs145920072
- ESP rs145920072
- ExAC rs145920072
- TOPMed rs145920072
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.20
- MetaLR 0.08
- MetaSVM -1.09
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.05
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available