P28R (p.Pro28Arg) variant of CDKN2A (Tumor suppressor ARF)
P28R (p.Pro28Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
P28R (p.Pro28Arg) variant details
- p.Pro28Arg
- rs1282190742
- ClinGen CA373086977
- ClinVar RCV001211113
- gnomAD rs1282190742
- Uncertain significance
- Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- AlphaMissense 0.20
- MetaLR 0.23
- MetaSVM -0.83
- SIFT 0.10
- EVE 0.40
- ClinVar: Uncertain significance (Familial melanoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)