I48F (p.Ile48Phe) variant of ETV6 (Transcription factor ETV6)
I48F (p.Ile48Phe) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
I48F (p.Ile48Phe) variant details
- p.Ile48Phe
- ExAC rs775555383
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.10
- CADD 20.80
- PolyPhen-2 0.16
- SIFT 0.76
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available