S52G (p.Ser52Gly) variant of CDKN2A (Tumor suppressor ARF)
S52G (p.Ser52Gly) 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; Familial melanoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
S52G (p.Ser52Gly) variant details
- p.Ser52Gly
- rs1587358275
- ClinGen CA373086842
- ClinVar RCV000807404
- ClinVar RCV002397651
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- AlphaMissense 0.19
- MetaLR 0.28
- MetaSVM -0.74
- SIFT 0.24
- EVE 0.33
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial melanoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Skin Cancer (PDQ®): Health Professional Version. (PMID 26389333)