R7K (p.Arg7Lys) variant of DNAH5 (Dynein axonemal heavy chain 5)
R7K (p.Arg7Lys) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R7K (p.Arg7Lys) variant details
- p.Arg7Lys
- rs139728564
- ClinGen CA3205312
- ClinVar RCV000475406
- ESP rs139728564
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.06
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.96
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)