T56K (p.Thr56Lys) variant of ETV1 (ETS translocation variant 1)
T56K (p.Thr56Lys) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
T56K (p.Thr56Lys) variant details
- p.Thr56Lys
- ExAC rs748240043
- gnomAD rs748240043
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.36
- CADD 28.40
- PolyPhen-2 0.72
- SIFT 0.04
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available