A40A (p.Ala40Ala) variant of ETV6 (Transcription factor ETV6)
A40A (p.Ala40Ala) in ETV6 (Transcription factor ETV6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A40A (p.Ala40Ala) variant details
- p.Ala40Ala
- rs1408630798
- gnomAD 12-11752536-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.23
- CADD 11.40
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available