R16P (p.Arg16Pro) variant of DNAH5 (Dynein axonemal heavy chain 5)
R16P (p.Arg16Pro) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R16P (p.Arg16Pro) variant details
- p.Arg16Pro
- ExAC rs778890170
- TOPMed rs778890170
- gnomAD rs778890170
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.12
- MetaLR 0.05
- MetaSVM -1.12
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available