R99H (p.Arg99His) variant of CDKN2A (Tumor suppressor ARF)
R99H (p.Arg99His) 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; Melanoma-pancreatic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R99H (p.Arg99His) variant details
- p.Arg99His
- rs878853646
- ClinGen CA10582654
- NCI-TCGA Cosmic COSV5868
- Uncertain significance
- Familial melanoma; Hereditary cancer-predisposing syndrome; Melanoma-pancreatic
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- AlphaMissense 0.68
- MetaLR 0.66
- MetaSVM 0.39
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.82
- ClinVar: Uncertain significance (Familial melanoma; Hereditary cancer-predisposing syndrome; Mela)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population. (PMID 8710906)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)