V71L (p.Val71Leu) variant of ETV1 (ETS translocation variant 1)
V71L (p.Val71Leu) in ETV1 (ETS translocation variant 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
V71L (p.Val71Leu) variant details
- p.Val71Leu
- TOPMed rs1403337828
- gnomAD rs1403337828
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.28
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available