E44Q (p.Glu44Gln) variant of ETV6 (Transcription factor ETV6)
E44Q (p.Glu44Gln) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E44Q (p.Glu44Gln) variant details
- p.Glu44Gln
- gnomAD 12-11752546-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.11
- CADD 24.90
- PolyPhen-2 0.21
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available