Q68L (p.Gln68Leu) variant of ETV5 (ETS translocation variant 5)
Q68L (p.Gln68Leu) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
Q68L (p.Gln68Leu) variant details
- p.Gln68Leu
- TOPMed rs1429227347
- gnomAD rs1429227347
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.52
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)