F34L (p.Phe34Leu) variant of ETV1 (ETS translocation variant 1)
F34L (p.Phe34Leu) in ETV1 (ETS translocation variant 1) 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 0.37 / 1. The record also includes population frequency data and structural context.
F34L (p.Phe34Leu) variant details
- p.Phe34Leu
- NCI-TCGA Cosmic COSV5413
- NCI-TCGA Cosmic COSV9962
- cosmic curated COSV54138
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.10
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available