I139M (p.Ile139Met) variant of DNAH5 (Dynein axonemal heavy chain 5)
I139M (p.Ile139Met) 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.
I139M (p.Ile139Met) variant details
- p.Ile139Met
- NCI-TCGA Cosmic COSV9945
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.10
- MetaLR 0.06
- MetaSVM -1.07
- CADD 20.30
- PolyPhen-2 0.12
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available