P59L (p.Pro59Leu) variant of CDKN2A (Tumor suppressor ARF)
P59L (p.Pro59Leu) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Familial melanoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and published literature.
P59L (p.Pro59Leu) variant details
- p.Pro59Leu
- rs1477583857
- ClinGen CA373086794
- cosmic curated COSV10527
- ClinVar RCV001239844
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- AlphaMissense 0.16
- MetaLR 0.31
- MetaSVM -0.51
- SIFT 0.06
- EVE 0.35
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial melanoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence 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)