R87P (p.Arg87Pro) variant of CDKN2A (Tumor suppressor ARF)
R87P (p.Arg87Pro) 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; Melanoma, cutaneous. The record also includes structural context.
R87P (p.Arg87Pro) variant details
- p.Arg87Pro
- cosmic curated COSV58683
- ExAC rs759763964
- TOPMed rs759763964
- gnomAD rs759763964
- Uncertain significance
- Familial melanoma; Hereditary cancer-predisposing syndrome; Melanoma, cutaneous
- Missense
- ClinVar: Uncertain significance (Familial melanoma; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available