V128E (p.Val128Glu) variant of DNAH5 (Dynein axonemal heavy chain 5)
V128E (p.Val128Glu) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Primary ciliary dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
V128E (p.Val128Glu) variant details
- p.Val128Glu
- rs752873229
- ClinGen CA3205197
- ClinVar RCV002903677
- ExAC rs752873229
- Likely benign
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.28
- MetaLR 0.10
- MetaSVM -1.01
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Likely benign (Primary ciliary dyskinesia)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)