E98K (p.Glu98Lys) variant of ETV1 (ETS translocation variant 1)
E98K (p.Glu98Lys) 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.
E98K (p.Glu98Lys) variant details
- p.Glu98Lys
- cosmic curated COSV10806
- gnomAD rs1359804481
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.32
- CADD 23.90
- PolyPhen-2 0.47
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available