L39H (p.Leu39His) variant of ETV4 (ETS translocation variant 4)
L39H (p.Leu39His) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
L39H (p.Leu39His) variant details
- p.Leu39His
- ExAC rs774347424
- gnomAD rs774347424
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.15
- CADD 25.90
- PolyPhen-2 0.95
- SIFT 0.14
- Most common in the East Asian population (allele frequency 2.5e-05)