L41H (p.Leu41His) variant of ETV6 (Transcription factor ETV6)
L41H (p.Leu41His) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
L41H (p.Leu41His) variant details
- p.Leu41His
- ExAC rs746847704
- gnomAD rs746847704
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.20
- CADD 22.50
- PolyPhen-2 0.23
- SIFT 0.52
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available