L80I (p.Leu80Ile) variant of ETV5 (ETS translocation variant 5)
L80I (p.Leu80Ile) in ETV5 (ETS translocation variant 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 0.67 / 1. The record also includes population frequency data.
L80I (p.Leu80Ile) variant details
- p.Leu80Ile
- NCI-TCGA Cosmic COSV6050
- cosmic curated COSV60501
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- CADD 8.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CEU population (allele frequency 0.02)