N38S (p.Asn38Ser) variant of DNAH5 (Dynein axonemal heavy chain 5)
N38S (p.Asn38Ser) 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.
N38S (p.Asn38Ser) variant details
- p.Asn38Ser
- rs1163468590
- ClinGen CA359230197
- ClinVar RCV001350026
- TOPMed rs1163468590
- Uncertain significance
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.12
- MetaLR 0.03
- MetaSVM -1.06
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.02
- 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)