R2677P (p.Arg2677Pro) variant of DNAH5 (Dynein axonemal heavy chain 5)
R2677P (p.Arg2677Pro) 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 0.68 / 1. The record also includes published literature and structural context.
R2677P (p.Arg2677Pro) variant details
- p.Arg2677Pro
- rs886043448
- ClinGen CA359221624
- ClinVar RCV003649759
- Likely pathogenic
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- AlphaMissense 0.91
- MetaLR 0.53
- MetaSVM 0.47
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Likely pathogenic (Primary ciliary dyskinesia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)