D56G (p.Asp56Gly) variant of ETV4 (ETS translocation variant 4)
D56G (p.Asp56Gly) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data.
D56G (p.Asp56Gly) variant details
- p.Asp56Gly
- gnomAD rs1200203223
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.50
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)