Q12R (p.Gln12Arg) variant of ETV6 (Transcription factor ETV6)
Q12R (p.Gln12Arg) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Q12R (p.Gln12Arg) variant details
- p.Gln12Arg
- gnomAD 12-11752451-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.17
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available