R7* (p.Arg7Ter) variant of POLH (DNA polymerase eta)
R7* (p.Arg7Ter) in POLH (DNA polymerase eta) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
R7* (p.Arg7Ter) variant details
- p.Arg7Ter
- rs1422041536
- NCI-TCGA Cosmic COSV6477
- cosmic curated COSV64779
- TOPMed rs1422041536
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.682
- CADD 36.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available