C8C (p.Cys8Cys) variant of ETV6 (Transcription factor ETV6)
C8C (p.Cys8Cys) in ETV6 (Transcription factor ETV6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
C8C (p.Cys8Cys) variant details
- p.Cys8Cys
- rs1286400353
- gnomAD 12-11650151-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.283
- CADD 14.70
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available