A31T (p.Ala31Thr) variant of DNAH5 (Dynein axonemal heavy chain 5)
A31T (p.Ala31Thr) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A31T (p.Ala31Thr) variant details
- p.Ala31Thr
- gnomAD rs1467083511
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.11
- MetaLR 0.08
- MetaSVM -1.07
- CADD 14.80
- PolyPhen-2 0.01
- SIFT 0.05
- Population evidence available
- Structural context available