R25Q (p.Arg25Gln) variant of ETV5 (ETS translocation variant 5)
R25Q (p.Arg25Gln) in ETV5 (ETS translocation variant 5) 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 0.51 / 1. The record also includes population frequency data.
R25Q (p.Arg25Gln) variant details
- p.Arg25Gln
- ExAC rs763263094
- TOPMed rs763263094
- gnomAD rs763263094
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.29
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)