R67W (p.Arg67Trp) variant of SETBP1 (SET-binding protein)
R67W (p.Arg67Trp) in SETBP1 (SET-binding protein) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R67W (p.Arg67Trp) variant details
- p.Arg67Trp
- rs955034546
- NCI-TCGA Cosmic COSV5631
- cosmic curated COSV56316
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- CADD 25.30
- PolyPhen-2 0.52
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available