L70F (p.Leu70Phe) variant of ETV6 (Transcription factor ETV6)
L70F (p.Leu70Phe) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
L70F (p.Leu70Phe) variant details
- p.Leu70Phe
- Ensembl rs1565546078
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.44
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available