R98L (p.Arg98Leu) variant of CDKN2A (Tumor suppressor ARF)
R98L (p.Arg98Leu) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial melanoma; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R98L (p.Arg98Leu) variant details
- p.Arg98Leu
- rs11552822
- cosmic curated COSV10880
- ClinGen CA16602752
- NCI-TCGA Cosmic COSV5868
- Conflicting interpretations
- Familial melanoma; Hereditary cancer-predisposing syndrome
- 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: Conflicting classifications of pathogenicity (Familial melanoma; Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other… (PMID 10874641)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)