P64S (p.Pro64Ser) variant of ETV1 (ETS translocation variant 1)
P64S (p.Pro64Ser) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
P64S (p.Pro64Ser) variant details
- p.Pro64Ser
- TOPMed rs1377461633
- gnomAD rs1377461633
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.43
- CADD 27.90
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available