A80G (p.Ala80Gly) variant of ETV1 (ETS translocation variant 1)
A80G (p.Ala80Gly) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A80G (p.Ala80Gly) variant details
- p.Ala80Gly
- TOPMed rs1247959899
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.13
- CADD 23.60
- PolyPhen-2 0.03
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available