E114G (p.Glu114Gly) variant of ETV5 (ETS translocation variant 5)
E114G (p.Glu114Gly) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
E114G (p.Glu114Gly) variant details
- p.Glu114Gly
- 1000Genomes rs557148325
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.29
- CADD 27.60
- Most common in the 1KG:KHV population (allele frequency 0.005)