R98P (p.Arg98Pro) variant of CDKN2A (Tumor suppressor ARF)
R98P (p.Arg98Pro) 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 0.62 / 1. The record also includes published literature and structural context.
R98P (p.Arg98Pro) variant details
- p.Arg98Pro
- rs11552822
- ClinGen CA373086232
- NCI-TCGA Cosmic COSV5868
- Uncertain significance
- Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- AlphaMissense 0.84
- MetaLR 0.63
- MetaSVM 0.30
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.40
- ClinVar: Uncertain significance (Familial melanoma)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Somatic mutations of the MTS (multiple tumor suppressor) 1/CDK4l (cyclin-dependent kinase-4 inhibitor) gene in human… (PMID 8060323)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)