D4260V (p.Asp4260Val) variant of DNAH5 (Dynein axonemal heavy chain 5)
D4260V (p.Asp4260Val) 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 population frequency data, published literature, and structural context.
D4260V (p.Asp4260Val) variant details
- p.Asp4260Val
- rs1744309029
- ClinGen CA359204168
- ClinVar RCV001061194
- Ensembl rs1744309029
- Likely pathogenic
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.77
- MetaLR 0.37
- MetaSVM 0.18
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Primary ciliary dyskinesia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)