D72E (p.Asp72Glu) variant of ETV4 (ETS translocation variant 4)
D72E (p.Asp72Glu) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data.
D72E (p.Asp72Glu) variant details
- p.Asp72Glu
- Ensembl rs1019048632
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.12
- CADD 23.20
- PolyPhen-2 0.35
- SIFT 0.04
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)