P106L (p.Pro106Leu) variant of ETV4 (ETS translocation variant 4)
P106L (p.Pro106Leu) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
P106L (p.Pro106Leu) variant details
- p.Pro106Leu
- 1000Genomes rs199582761
- ExAC rs199582761
- TOPMed rs199582761
- gnomAD rs199582761
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.07
- CADD 22.80
- PolyPhen-2 0.78
- SIFT 0.77
- Most common in the African/African-American population (allele frequency 0.00012)