R2771C (p.Arg2771Cys) variant of DNAH5 (Dynein axonemal heavy chain 5)
R2771C (p.Arg2771Cys) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Primary ciliary dyskinesia; Primary ciliary dyskinesia 3; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R2771C (p.Arg2771Cys) variant details
- p.Arg2771Cys
- rs769557047
- ClinGen CA3202846
- NCI-TCGA Cosmic COSV5424
- ClinVar RCV002430392
- Pathogenic/Likely pathogenic
- Primary ciliary dyskinesia; Primary ciliary dyskinesia 3; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.58
- AlphaMissense 0.39
- MetaLR 0.04
- MetaSVM -1.03
- CADD 32.00
- PolyPhen-2 0.00
- ClinVar: Pathogenic/Likely pathogenic (Primary ciliary dyskinesia; Primary ciliary dyskinesia 3; not pr)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)