K23R (p.Lys23Arg) variant of DNAH5 (Dynein axonemal heavy chain 5)
K23R (p.Lys23Arg) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
K23R (p.Lys23Arg) variant details
- p.Lys23Arg
- rs1190528830
- ClinGen CA359230507
- ClinVar RCV003650315
- gnomAD rs1190528830
- Likely benign
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.09
- MetaLR 0.05
- MetaSVM -1.08
- CADD 22.30
- PolyPhen-2 0.02
- SIFT 0.07
- 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)