R51T (p.Arg51Thr) variant of CDKN2A (Tumor suppressor ARF)
R51T (p.Arg51Thr) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial melanoma; not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R51T (p.Arg51Thr) variant details
- p.Arg51Thr
- rs1014358179
- ClinGen CA190745873
- ClinVar RCV000560036
- ClinVar RCV000570741
- Conflicting interpretations
- Familial melanoma; not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- AlphaMissense 0.63
- MetaLR 0.76
- MetaSVM 0.79
- CADD 28.60
- SIFT 0.00
- EVE 0.48
- ClinVar: Conflicting classifications of pathogenicity (Familial melanoma; not provided; Hereditary cancer-predisposing)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 9.6e-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)