V104A (p.Val104Ala) variant of DNAH5 (Dynein axonemal heavy chain 5)
V104A (p.Val104Ala) 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 0.10 / 1. The record also includes population frequency data and structural context.
V104A (p.Val104Ala) variant details
- p.Val104Ala
- NCI-TCGA Cosmic COSV9944
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0957
- REVEL 0.04
- MetaLR 0.03
- MetaSVM -0.95
- CADD 6.78
- PolyPhen-2 0.00
- SIFT 0.87
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available