R52* (p.Arg52Ter) variant of FTO (Q9C0B1)
R52* (p.Arg52Ter) in FTO (Q9C0B1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
R52* (p.Arg52Ter) variant details
- p.Arg52Ter
- rs531215275
- ClinGen CA396121270
- NCI-TCGA Cosmic COSV6711
- cosmic curated COSV67113
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.85
- CADD 36.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available