I48M (p.Ile48Met) variant of ETV6 (Transcription factor ETV6)
I48M (p.Ile48Met) 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 and structural context.
I48M (p.Ile48Met) variant details
- p.Ile48Met
- ExAC rs762963642
- gnomAD rs762963642
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.06
- CADD 21.30
- PolyPhen-2 0.31
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available