I43T (p.Ile43Thr) variant of DNAH5 (Dynein axonemal heavy chain 5)
I43T (p.Ile43Thr) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
I43T (p.Ile43Thr) variant details
- p.Ile43Thr
- rs767228474
- ClinGen CA3205277
- ClinVar RCV000695611
- ClinVar RCV003148831
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.07
- MetaLR 0.04
- MetaSVM -1.08
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.26
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)