V2M (p.Val2Met) variant of CDKN2A (Tumor suppressor ARF)
V2M (p.Val2Met) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
V2M (p.Val2Met) variant details
- p.Val2Met
- rs1820538120
- ClinGen CA373087131
- cosmic curated COSV64272
- ClinVar RCV001339657
- Uncertain significance
- Familial melanoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- AlphaMissense 0.44
- MetaLR 0.20
- MetaSVM -0.95
- SIFT 0.26
- ClinVar: Uncertain significance (Familial melanoma; Hereditary cancer-predisposing syndrome)
- 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)