V20M (p.Val20Met) variant of CDKN2A (Tumor suppressor ARF)
V20M (p.Val20Met) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
V20M (p.Val20Met) variant details
- p.Val20Met
- TOPMed rs1820533989
- gnomAD rs1820533989
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- CADD 23.30
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available