Q8K (p.Gln8Lys) variant of DNAH5 (Dynein axonemal heavy chain 5)
Q8K (p.Gln8Lys) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from ClinVar 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 0.28 / 1. The record also includes population frequency data and structural context.
Q8K (p.Gln8Lys) variant details
- p.Gln8Lys
- ExAC rs776523132
- TOPMed rs776523132
- gnomAD rs776523132
- Uncertain significance
- Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.07
- MetaLR 0.04
- MetaSVM -1.08
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (Primary ciliary dyskinesia)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available