P135S (p.Pro135Ser) variant of DNAH5 (Dynein axonemal heavy chain 5)
P135S (p.Pro135Ser) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
P135S (p.Pro135Ser) variant details
- p.Pro135Ser
- TOPMed rs1381733326
- gnomAD rs1381733326
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.04
- MetaLR 0.02
- MetaSVM -1.01
- CADD 8.52
- PolyPhen-2 0.00
- SIFT 0.26
- Population evidence available
- Structural context available