P19L (p.Pro19Leu) variant of ETV6 (Transcription factor ETV6)
P19L (p.Pro19Leu) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P19L (p.Pro19Leu) variant details
- p.Pro19Leu
- gnomAD 12-11752472-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.19
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available