T133S (p.Thr133Ser) variant of DNAH5 (Dynein axonemal heavy chain 5)
T133S (p.Thr133Ser) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
T133S (p.Thr133Ser) variant details
- p.Thr133Ser
- ExAC rs751820443
- TOPMed rs751820443
- gnomAD rs751820443
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.11
- MetaLR 0.03
- MetaSVM -1.07
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.62
- Population evidence available
- Structural context available