P51L (p.Pro51Leu) variant of ETV6 (Transcription factor ETV6)
P51L (p.Pro51Leu) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
P51L (p.Pro51Leu) variant details
- p.Pro51Leu
- gnomAD 12-11752568-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.45
- MetaLR 0.26
- MetaSVM -0.52
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available