K11K (p.Lys11Lys) variant of ETV6 (Transcription factor ETV6)
K11K (p.Lys11Lys) in ETV6 (Transcription factor ETV6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
K11K (p.Lys11Lys) variant details
- p.Lys11Lys
- rs547638904
- gnomAD 12-11650160-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.733
- CADD 25.20
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Literature evidence available