S73R (p.Ser73Arg) variant of CDKN2A (Tumor suppressor ARF)
S73R (p.Ser73Arg) 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 Li-Fraumeni syndrome; Familial pancreatic carcinoma; Familial melanoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data.
S73R (p.Ser73Arg) variant details
- p.Ser73Arg
- 1000Genomes rs201208890
- ESP rs201208890
- ExAC rs201208890
- TOPMed rs201208890
- Uncertain significance
- Li-Fraumeni syndrome; Familial pancreatic carcinoma; Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.0937
- CADD 1.84
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:PAPUANHIGHLANDS population (allele frequency 0.25)