R67I (p.Arg67Ile) variant of DNAH5 (Dynein axonemal heavy chain 5)
R67I (p.Arg67Ile) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R67I (p.Arg67Ile) variant details
- p.Arg67Ile
- rs563017861
- ClinGen CA3205248
- NCI-TCGA Cosmic COSV5422
- NCI-TCGA Cosmic COSV5425
- Likely benign
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.08
- MetaLR 0.05
- MetaSVM -1.11
- CADD 23.00
- PolyPhen-2 0.04
- SIFT 0.03
- 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)