Y123C (p.Tyr123Cys) variant of ETV5 (ETS translocation variant 5)
Y123C (p.Tyr123Cys) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data.
Y123C (p.Tyr123Cys) variant details
- p.Tyr123Cys
- Ensembl rs1713895711
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.25
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 3.8e-06)