E45V (p.Glu45Val) variant of ETV1 (ETS translocation variant 1)
E45V (p.Glu45Val) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
E45V (p.Glu45Val) variant details
- p.Glu45Val
- ExAC rs771177778
- gnomAD rs771177778
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.52
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available