I4T (p.Ile4Thr) variant of DNAH5 (Dynein axonemal heavy chain 5)
I4T (p.Ile4Thr) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Primary ciliary dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
I4T (p.Ile4Thr) variant details
- p.Ile4Thr
- rs765239163
- ClinGen CA3205313
- ClinVar RCV003539071
- ExAC rs765239163
- Likely benign
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.03
- MetaLR 0.02
- MetaSVM -0.99
- CADD 5.90
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Likely benign (Primary ciliary dyskinesia)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)