T27K (p.Thr27Lys) variant of ETV1 (ETS translocation variant 1)
T27K (p.Thr27Lys) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
T27K (p.Thr27Lys) variant details
- p.Thr27Lys
- TOPMed rs1782716201
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.18
- CADD 22.90
- PolyPhen-2 0.06
- SIFT 0.55
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available