V87M (p.Val87Met) variant of DNAH5 (Dynein axonemal heavy chain 5)
V87M (p.Val87Met) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary ciliary dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
V87M (p.Val87Met) variant details
- p.Val87Met
- rs1778067241
- ClinGen CA359226788
- ClinVar RCV001277836
- Ensembl rs1778067241
- Uncertain significance
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.03
- MetaLR 0.06
- MetaSVM -1.03
- CADD 15.90
- PolyPhen-2 0.02
- SIFT 0.07
- ClinVar: Uncertain significance (Primary ciliary dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)