R2799P (p.Arg2799Pro) variant of DNAH5 (Dynein axonemal heavy chain 5)
R2799P (p.Arg2799Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
R2799P (p.Arg2799Pro) variant details
- p.Arg2799Pro
- rs1182948401
- ClinGen CA359219018
- ClinVar RCV002434860
- TOPMed rs1182948401
- Likely pathogenic
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- AlphaMissense 0.41
- MetaLR 0.33
- MetaSVM -0.14
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Likely pathogenic (Primary ciliary dyskinesia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)