Q7K (p.Gln7Lys) variant of ETV6 (Transcription factor ETV6)
Q7K (p.Gln7Lys) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Q7K (p.Gln7Lys) variant details
- p.Gln7Lys
- gnomAD rs1376185672
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.07
- CADD 18.70
- PolyPhen-2 0.01
- SIFT 0.89
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available