A39T (p.Ala39Thr) variant of CDKN2A (Tumor suppressor ARF)
A39T (p.Ala39Thr) 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; Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and published literature.
A39T (p.Ala39Thr) variant details
- p.Ala39Thr
- rs1064795551
- ClinGen CA16618841
- ClinVar RCV000480619
- ClinVar RCV000638956
- Conflicting interpretations
- Familial melanoma; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- CADD 6.25
- ClinVar: Conflicting classifications of pathogenicity (Familial melanoma; Hereditary cancer-predisposing syndrome; not)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)