F129L (p.Phe129Leu) variant of DNAH5 (Dynein axonemal heavy chain 5)
F129L (p.Phe129Leu) 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 0.26 / 1. The record also includes population frequency data and structural context.
F129L (p.Phe129Leu) variant details
- p.Phe129Leu
- NCI-TCGA Cosmic COSV5421
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.18
- MetaLR 0.08
- MetaSVM -1.05
- CADD 23.30
- PolyPhen-2 0.06
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available