N119S (p.Asn119Ser) variant of DNAH5 (Dynein axonemal heavy chain 5)
N119S (p.Asn119Ser) 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 0.29 / 1. The record also includes published literature and structural context.
N119S (p.Asn119Ser) variant details
- p.Asn119Ser
- rs1777508838
- ClinGen CA359223893
- ClinVar RCV001277835
- Ensembl rs1777508838
- Uncertain significance
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- AlphaMissense 0.06
- MetaLR 0.02
- MetaSVM -0.99
- PolyPhen-2 0.00
- SIFT 0.73
- MutPred 0.43
- ClinVar: Uncertain significance (Primary ciliary dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)