Y118S (p.Tyr118Ser) variant of ETV5 (ETS translocation variant 5)
Y118S (p.Tyr118Ser) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data.
Y118S (p.Tyr118Ser) variant details
- p.Tyr118Ser
- TOPMed rs1713922611
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.50
- CADD 26.30
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)