Q58* (p.Gln58Ter) variant of CDKN2A (Tumor suppressor ARF)
Q58* (p.Gln58Ter) in CDKN2A (Tumor suppressor ARF) 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 0.66 / 1. The record also includes population frequency data and published literature.
Q58* (p.Gln58Ter) variant details
- p.Gln58Ter
- rs2131148082
- ClinGen CA373086804
- cosmic curated COSV10527
- ClinVar RCV001368663
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.664
- CADD 37.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Skin Cancer (PDQ®): Health Professional Version. (PMID 26389333)