Q123R (p.Gln123Arg) variant of ETV4 (ETS translocation variant 4)
Q123R (p.Gln123Arg) 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 0.27 / 1. The record also includes population frequency data.
Q123R (p.Gln123Arg) variant details
- p.Gln123Arg
- gnomAD rs1179455018
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.08
- CADD 23.70
- PolyPhen-2 0.71
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)