V14I (p.Val14Ile) variant of DNAH5 (Dynein axonemal heavy chain 5)
V14I (p.Val14Ile) 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; Primary ciliary dyskinesia 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
V14I (p.Val14Ile) variant details
- p.Val14Ile
- rs1015850611
- ClinGen CA113933395
- ClinVar RCV001154438
- ClinVar RCV002558337
- Conflicting interpretations
- Primary ciliary dyskinesia; Primary ciliary dyskinesia 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.04
- CADD 9.21
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Conflicting classifications of pathogenicity (Primary ciliary dyskinesia; Primary ciliary dyskinesia 3)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)