A35S (p.Ala35Ser) variant of CDKN2A (Tumor suppressor ARF)
A35S (p.Ala35Ser) 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 Hereditary cancer-predisposing syndrome; not provided; Melanoma and neural syste. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A35S (p.Ala35Ser) variant details
- p.Ala35Ser
- rs1473253589
- ClinGen CA373086938
- ClinVar RCV002389690
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Melanoma and neural syste
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- AlphaMissense 0.61
- MetaLR 0.24
- MetaSVM -0.63
- CADD 15.20
- SIFT 0.07
- EVE 0.70
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Melanoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)