Q52H (p.Gln52His) variant of ETV1 (ETS translocation variant 1)
Q52H (p.Gln52His) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
Q52H (p.Gln52His) variant details
- p.Gln52His
- ExAC rs772517181
- TOPMed rs772517181
- gnomAD rs772517181
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.23
- CADD 22.40
- PolyPhen-2 1.00
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available