D2796H (p.Asp2796His) variant of DNAH5 (Dynein axonemal heavy chain 5)
D2796H (p.Asp2796His) 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 0.65 / 1. The record also includes published literature and structural context.
D2796H (p.Asp2796His) variant details
- p.Asp2796His
- rs2126899976
- ClinGen CA359219061
- ClinVar RCV002049980
- Ensembl rs2126899976
- Likely pathogenic
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- AlphaMissense 0.98
- MetaLR 0.51
- MetaSVM 0.38
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Likely pathogenic (Primary ciliary dyskinesia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)