S52I (p.Ser52Ile) variant of CDKN2A (Tumor suppressor ARF)
S52I (p.Ser52Ile) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Melanoma-pancreatic cancer syndrome; Melanoma, cutaneous malignant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S52I (p.Ser52Ile) variant details
- p.Ser52Ile
- rs104894109
- ClinGen CA120412
- ClinVar RCV000010032
- ClinVar RCV000471463
- Pathogenic/Likely pathogenic
- not provided; Melanoma-pancreatic cancer syndrome; Melanoma, cutaneous malignant
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.46
- CADD 23.40
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Melanoma-pancreatic cancer syndrome; Melanoma, cut)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: New founder germline mutations of CDKN2A in melanoma-prone families and multiple primary melanoma development in a… (PMID 17492760)
- Cited in: Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma… (PMID 9425228)