K110N (p.Lys110Asn) variant of DNAH5 (Dynein axonemal heavy chain 5)
K110N (p.Lys110Asn) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
K110N (p.Lys110Asn) variant details
- p.Lys110Asn
- rs138832246
- ClinGen CA3205211
- ClinVar RCV000231939
- ClinVar RCV001151413
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.08
- MetaLR 0.05
- MetaSVM -1.11
- CADD 18.10
- PolyPhen-2 0.32
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)