R30Q (p.Arg30Gln) variant of DNAH5 (Dynein axonemal heavy chain 5)
R30Q (p.Arg30Gln) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R30Q (p.Arg30Gln) variant details
- p.Arg30Gln
- Ensembl rs2152008994
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.11
- MetaLR 0.07
- MetaSVM -1.00
- CADD 18.20
- PolyPhen-2 0.22
- SIFT 0.02
- Population evidence available
- Structural context available