R115L (p.Arg115Leu) variant of CDKN2A (Tumor suppressor ARF)
R115L (p.Arg115Leu) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Melanoma; Hereditary cancer-predisposing syndrome; Melanoma, cutaneous malignant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R115L (p.Arg115Leu) variant details
- p.Arg115Leu
- rs104894094
- ClinGen CA120387
- NCI-TCGA Cosmic COSV5869
- cosmic curated COSV58692
- Pathogenic
- Melanoma; Hereditary cancer-predisposing syndrome; Melanoma, cutaneous malignant
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- AlphaMissense 0.62
- MetaLR 0.64
- MetaSVM 0.31
- PolyPhen-2 1.00
- SIFT 0.03
- MutPred 0.78
- ClinVar: Pathogenic (Melanoma; Hereditary cancer-predisposing syndrome; Melanoma, cut)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families. (PMID 10869234)
- Cited in: CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other… (PMID 10874641)