P79A (p.Pro79Ala) variant of ETV4 (ETS translocation variant 4)
P79A (p.Pro79Ala) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data.
P79A (p.Pro79Ala) variant details
- p.Pro79Ala
- ExAC rs778682340
- gnomAD rs778682340
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.50
- CADD 23.60
- PolyPhen-2 0.09
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.0007)