I2656T (p.Ile2656Thr) variant of DNAH5 (Dynein axonemal heavy chain 5)
I2656T (p.Ile2656Thr) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary ciliary dyskinesia 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
I2656T (p.Ile2656Thr) variant details
- p.Ile2656Thr
- rs752318477
- ClinGen CA3202943
- ClinVar RCV001594418
- ExAC rs752318477
- Likely pathogenic
- Primary ciliary dyskinesia 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.81
- MetaLR 0.51
- MetaSVM 0.36
- CADD 26.50
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (Primary ciliary dyskinesia 3)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)