R19* (p.Arg19Ter) variant of CDKN2A (Tumor suppressor ARF)
R19* (p.Arg19Ter) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R19* (p.Arg19Ter) variant details
- p.Arg19Ter
- rs2131148812
- ClinGen CA373087033
- cosmic curated COSV64268
- ClinVar RCV001992217
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.602
- CADD 35.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- 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)