V128M (p.Val128Met) variant of DNAH5 (Dynein axonemal heavy chain 5)
V128M (p.Val128Met) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
V128M (p.Val128Met) variant details
- p.Val128Met
- rs200553244
- ClinGen CA3205198
- ClinVar RCV000680160
- ClinVar RCV000796103
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.02
- MetaLR 0.07
- MetaSVM -1.09
- CADD 20.80
- PolyPhen-2 0.03
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)