V115M (p.Val115Met) variant of DNAH5 (Dynein axonemal heavy chain 5)
V115M (p.Val115Met) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Primary ciliary dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
V115M (p.Val115Met) variant details
- p.Val115Met
- rs141691604
- ClinGen CA3205209
- ClinVar RCV003080261
- 1000Genomes rs141691604
- Benign
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.06
- MetaLR 0.08
- MetaSVM -1.01
- CADD 21.90
- PolyPhen-2 0.30
- SIFT 0.00
- ClinVar: Benign (Primary ciliary dyskinesia)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)