T19K (p.Thr19Lys) variant of DNAH5 (Dynein axonemal heavy chain 5)
T19K (p.Thr19Lys) 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 0.18 / 1. The record also includes population frequency data and structural context.
T19K (p.Thr19Lys) variant details
- p.Thr19Lys
- ExAC rs757712771
- TOPMed rs757712771
- gnomAD rs757712771
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.10
- MetaLR 0.03
- MetaSVM -1.04
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available