L32H (p.Leu32His) variant of DNAH5 (Dynein axonemal heavy chain 5)
L32H (p.Leu32His) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
L32H (p.Leu32His) variant details
- p.Leu32His
- Ensembl rs1778381243
- Missense
- Variant Prioritization Score for Impact Estimate 0.0824
- REVEL 0.02
- MetaLR 0.02
- MetaSVM -1.00
- CADD 7.39
- PolyPhen-2 0.00
- SIFT 0.27
- Population evidence available
- Structural context available