V24A (p.Val24Ala) variant of ETV6 (Transcription factor ETV6)
V24A (p.Val24Ala) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
V24A (p.Val24Ala) variant details
- p.Val24Ala
- TOPMed rs1424443413
- gnomAD rs1424443413
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.05
- CADD 22.60
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available