V74I (p.Val74Ile) variant of DNAH5 (Dynein axonemal heavy chain 5)
V74I (p.Val74Ile) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary ciliary dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
V74I (p.Val74Ile) variant details
- p.Val74Ile
- rs1778072400
- ClinGen CA359227275
- ClinVar RCV003082062
- TOPMed rs1778072400
- Uncertain significance
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.10
- MetaLR 0.05
- MetaSVM -1.06
- CADD 12.90
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (Primary ciliary dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)