P25Q (p.Pro25Gln) variant of ETV6 (Transcription factor ETV6)
P25Q (p.Pro25Gln) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P25Q (p.Pro25Gln) variant details
- p.Pro25Gln
- gnomAD 12-11752490-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.04
- CADD 22.70
- PolyPhen-2 0.13
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available