R55P (p.Arg55Pro) variant of ETV6 (Transcription factor ETV6)
R55P (p.Arg55Pro) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R55P (p.Arg55Pro) variant details
- p.Arg55Pro
- gnomAD 12-11839140-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.28
- MetaLR 0.11
- MetaSVM -1.11
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available