V74L (p.Val74Leu) variant of DNAH5 (Dynein axonemal heavy chain 5)
V74L (p.Val74Leu) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
V74L (p.Val74Leu) variant details
- p.Val74Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.08
- MetaLR 0.06
- MetaSVM -1.06
- CADD 13.40
- PolyPhen-2 0.01
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available