G96S (p.Gly96Ser) variant of DNAH5 (Dynein axonemal heavy chain 5)
G96S (p.Gly96Ser) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
G96S (p.Gly96Ser) variant details
- p.Gly96Ser
- gnomAD rs1215940712
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.06
- AlphaMissense 0.18
- MetaLR 0.11
- MetaSVM -1.03
- CADD 12.30
- PolyPhen-2 0.01
- Population evidence available
- Structural context available