L56F (p.Leu56Phe) variant of ETV6 (Transcription factor ETV6)
L56F (p.Leu56Phe) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L56F (p.Leu56Phe) variant details
- p.Leu56Phe
- gnomAD rs1278146731
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.08
- CADD 23.60
- PolyPhen-2 0.16
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available