A107P (p.Ala107Pro) variant of ETV5 (ETS translocation variant 5)
A107P (p.Ala107Pro) in ETV5 (ETS translocation variant 5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
A107P (p.Ala107Pro) variant details
- p.Ala107Pro
- ExAC rs745776119
- TOPMed rs745776119
- gnomAD rs745776119
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.07
- CADD 16.90
- PolyPhen-2 0.27
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)