R6G (p.Arg6Gly) variant of DNAH5 (Dynein axonemal heavy chain 5)
R6G (p.Arg6Gly) 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.
R6G (p.Arg6Gly) variant details
- p.Arg6Gly
- gnomAD rs1486337189
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.14
- MetaLR 0.11
- MetaSVM -1.04
- CADD 24.20
- PolyPhen-2 0.97
- SIFT 0.01
- Population evidence available
- Structural context available