P72L (p.Pro72Leu) variant of CDKN2A (Tumor suppressor ARF)
P72L (p.Pro72Leu) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial melanoma; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature.
P72L (p.Pro72Leu) variant details
- p.Pro72Leu
- rs121913387
- ClinGen CA16602756
- NCI-TCGA Cosmic COSV5868
- cosmic curated COSV58682
- Pathogenic
- Familial melanoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- AlphaMissense 0.15
- MetaLR 0.23
- MetaSVM -0.87
- SIFT 0.26
- EVE 0.50
- ClinVar: Pathogenic (Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)