Q7R (p.Gln7Arg) variant of ETV6 (Transcription factor ETV6)
Q7R (p.Gln7Arg) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
Q7R (p.Gln7Arg) variant details
- p.Gln7Arg
- gnomAD 12-11650147-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.09
- CADD 19.60
- PolyPhen-2 0.06
- SIFT 0.50
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available