R32I (p.Arg32Ile) variant of ETV1 (ETS translocation variant 1)
R32I (p.Arg32Ile) in ETV1 (ETS translocation variant 1) 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 0.59 / 1. The record also includes population frequency data and structural context.
R32I (p.Arg32Ile) variant details
- p.Arg32Ile
- NCI-TCGA Cosmic COSV5415
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.41
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available