A35S (p.Ala35Ser) variant of DNAH5 (Dynein axonemal heavy chain 5)
A35S (p.Ala35Ser) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A35S (p.Ala35Ser) variant details
- p.Ala35Ser
- 1000Genomes rs528860972
- ExAC rs528860972
- gnomAD rs528860972
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.06
- MetaLR 0.03
- MetaSVM -1.05
- CADD 12.40
- PolyPhen-2 0.00
- SIFT 0.26
- Population evidence available
- Structural context available