P85Q (p.Pro85Gln) variant of ETV1 (ETS translocation variant 1)
P85Q (p.Pro85Gln) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
P85Q (p.Pro85Gln) variant details
- p.Pro85Gln
- TOPMed rs1217388375
- gnomAD rs1217388375
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.27
- CADD 23.90
- PolyPhen-2 0.46
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available