A52A (p.Ala52Ala) variant of ETV6 (Transcription factor ETV6)
A52A (p.Ala52Ala) in ETV6 (Transcription factor ETV6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
A52A (p.Ala52Ala) variant details
- p.Ala52Ala
- rs762064732
- gnomAD 12-11752572-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.683
- CADD 12.50
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available