P28S (p.Pro28Ser) variant of CDKN2A (Tumor suppressor ARF)
P28S (p.Pro28Ser) 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 Familial melanoma; Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P28S (p.Pro28Ser) variant details
- p.Pro28Ser
- rs1587358521
- ClinGen CA373086978
- cosmic curated COSV64259
- ClinVar RCV000818072
- Uncertain significance
- Familial melanoma; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- AlphaMissense 0.19
- MetaLR 0.18
- MetaSVM -0.93
- SIFT 0.37
- EVE 0.26
- ClinVar: Uncertain significance (Familial melanoma; Hereditary cancer-predisposing syndrome; not)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)