S13N (p.Ser13Asn) variant of DNAH5 (Dynein axonemal heavy chain 5)
S13N (p.Ser13Asn) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S13N (p.Ser13Asn) variant details
- p.Ser13Asn
- rs747161968
- ClinGen CA3205310
- ClinVar RCV002948362
- ExAC rs747161968
- Benign
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.13
- MetaLR 0.14
- MetaSVM -0.98
- CADD 24.50
- PolyPhen-2 0.95
- SIFT 0.10
- ClinVar: Benign (Primary ciliary dyskinesia)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)