D65D (p.Asp65Asp) variant of ETV6 (Transcription factor ETV6)
D65D (p.Asp65Asp) in ETV6 (Transcription factor ETV6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
D65D (p.Asp65Asp) variant details
- p.Asp65Asp
- rs553200577
- gnomAD 12-11839171-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.439
- CADD 11.10
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available
- Literature evidence available