P92T (p.Pro92Thr) variant of ETV1 (ETS translocation variant 1)
P92T (p.Pro92Thr) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
P92T (p.Pro92Thr) variant details
- p.Pro92Thr
- TOPMed rs1787183628
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.31
- CADD 23.80
- PolyPhen-2 0.92
- SIFT 0.11
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available