R54S (p.Arg54Ser) variant of CDKN2A (Tumor suppressor ARF)
R54S (p.Arg54Ser) 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 Hereditary cancer-predisposing syndrome; Familial melanoma; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R54S (p.Arg54Ser) variant details
- p.Arg54Ser
- rs896054565
- ClinGen CA190745865
- cosmic curated COSV10592
- ClinVar RCV000571273
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial melanoma; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- CADD 18.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial melanoma; not)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- 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)