P2662R (p.Pro2662Arg) variant of DNAH5 (Dynein axonemal heavy chain 5)
P2662R (p.Pro2662Arg) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Primary ciliary dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
P2662R (p.Pro2662Arg) variant details
- p.Pro2662Arg
- rs981622980
- ClinGen CA113962414
- ClinVar RCV000793946
- Ensembl rs981622980
- Pathogenic
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- AlphaMissense 1.00
- MetaLR 0.57
- MetaSVM 0.57
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic (Primary ciliary dyskinesia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)