T56I (p.Thr56Ile) variant of ETV1 (ETS translocation variant 1)
T56I (p.Thr56Ile) 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.
T56I (p.Thr56Ile) variant details
- p.Thr56Ile
- ExAC rs748240043
- gnomAD rs748240043
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.29
- CADD 22.90
- PolyPhen-2 0.09
- SIFT 0.49
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available