Q74H (p.Gln74His) variant of ETV5 (ETS translocation variant 5)
Q74H (p.Gln74His) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
Q74H (p.Gln74His) variant details
- p.Gln74His
- ESP rs142245897
- ExAC rs142245897
- TOPMed rs142245897
- gnomAD rs142245897
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.25
- CADD 22.40
- PolyPhen-2 1.00
- SIFT 0.74
- Most common in the African/African-American population (allele frequency 0.00058)