R87W (p.Arg87Trp) variant of CDKN2A (Tumor suppressor ARF)
R87W (p.Arg87Trp) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Melanoma-pancreatic cancer syndrome; Hereditary cancer-predisposin. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R87W (p.Arg87Trp) variant details
- p.Arg87Trp
- rs749714198
- ClinGen CA5012197
- cosmic curated COSV58718
- ClinVar RCV000457482
- Likely pathogenic
- not provided; Melanoma-pancreatic cancer syndrome; Hereditary cancer-predisposin
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.56
- AlphaMissense 0.15
- MetaLR 0.27
- MetaSVM -0.50
- CADD 28.00
- PolyPhen-2 0.03
- ClinVar: Likely pathogenic (not provided; Melanoma-pancreatic cancer syndrome; Hereditary ca)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 2.3e-05)
- 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)