I10I (p.Ile10Ile) variant of ETV6 (Transcription factor ETV6)
I10I (p.Ile10Ile) in ETV6 (Transcription factor ETV6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
I10I (p.Ile10Ile) variant details
- p.Ile10Ile
- gnomAD 12-11650157-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.253
- CADD 14.50
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available