P23L (p.Pro23Leu) variant of ETV6 (Transcription factor ETV6)
P23L (p.Pro23Leu) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P23L (p.Pro23Leu) variant details
- p.Pro23Leu
- gnomAD 12-11752484-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.14
- CADD 25.50
- PolyPhen-2 0.92
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available