V14F (p.Val14Phe) variant of DNAH5 (Dynein axonemal heavy chain 5)
V14F (p.Val14Phe) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Primary ciliary dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
V14F (p.Val14Phe) variant details
- p.Val14Phe
- rs1015850611
- ClinGen CA359189848
- ClinVar RCV002323334
- TOPMed rs1015850611
- Conflicting interpretations
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.06
- MetaLR 0.05
- MetaSVM -1.09
- CADD 18.60
- PolyPhen-2 0.39
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Primary ciliary dyskinesia)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)