R90W (p.Arg90Trp) variant of ETV5 (ETS translocation variant 5)
R90W (p.Arg90Trp) in ETV5 (ETS translocation variant 5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
R90W (p.Arg90Trp) variant details
- p.Arg90Trp
- rs1276673113
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10011
- TOPMed rs1276673113
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.42
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)