A66V (p.Ala66Val) variant of ETV4 (ETS translocation variant 4)
A66V (p.Ala66Val) in ETV4 (ETS translocation variant 4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
A66V (p.Ala66Val) variant details
- p.Ala66Val
- rs746305316
- ExAC rs746305316
- TOPMed rs746305316
- gnomAD rs746305316
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.20
- CADD 25.20
- PolyPhen-2 0.27
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)