P37R (p.Pro37Arg) variant of CDKN2A (Tumor suppressor ARF)
P37R (p.Pro37Arg) 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 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.
P37R (p.Pro37Arg) variant details
- p.Pro37Arg
- rs1361441265
- ClinGen CA373086924
- ClinVar RCV001347786
- ClinVar RCV004951579
- Uncertain significance
- Familial melanoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- AlphaMissense 0.17
- MetaLR 0.30
- MetaSVM -0.77
- SIFT 0.01
- EVE 0.25
- ClinVar: Uncertain significance (Familial melanoma; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)