R17W (p.Arg17Trp) variant of PML (Protein PML)
R17W (p.Arg17Trp) in PML (Protein PML) 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 0.35 / 1. The record also includes population frequency data and structural context.
R17W (p.Arg17Trp) variant details
- p.Arg17Trp
- NCI-TCGA Cosmic COSV5144
- cosmic curated COSV51445
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.13
- CADD 18.50
- PolyPhen-2 0.33
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available