P85L (p.Pro85Leu) variant of ETV5 (ETS translocation variant 5)
P85L (p.Pro85Leu) in ETV5 (ETS translocation variant 5) 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.
P85L (p.Pro85Leu) variant details
- p.Pro85Leu
- TOPMed rs907103876
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.11
- CADD 24.60
- PolyPhen-2 0.03
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 3e-05)