A45T (p.Ala45Thr) variant of DNAH5 (Dynein axonemal heavy chain 5)
A45T (p.Ala45Thr) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A45T (p.Ala45Thr) variant details
- p.Ala45Thr
- TOPMed rs1382956575
- gnomAD rs1382956575
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.18
- MetaLR 0.16
- MetaSVM -0.84
- CADD 24.70
- PolyPhen-2 0.73
- SIFT 0.00
- Population evidence available
- Structural context available