Q20P (p.Gln20Pro) variant of DNAH5 (Dynein axonemal heavy chain 5)
Q20P (p.Gln20Pro) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Q20P (p.Gln20Pro) variant details
- p.Gln20Pro
- TOPMed rs1778386292
- gnomAD rs1778386292
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.13
- MetaLR 0.11
- MetaSVM -1.00
- CADD 29.20
- PolyPhen-2 0.53
- SIFT 0.03
- Population evidence available
- Structural context available