A14T (p.Ala14Thr) variant of CDKN2A (Tumor suppressor ARF)
A14T (p.Ala14Thr) 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; Melanoma-pancreatic cancer syndrome; Melanoma, cutaneous mali. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- rs1241364288
- ClinGen CA373087061
- cosmic curated COSV64258
- ClinVar RCV000687115
- Conflicting interpretations
- Familial melanoma; Melanoma-pancreatic cancer syndrome; Melanoma, cutaneous mali
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- AlphaMissense 0.11
- MetaLR 0.24
- MetaSVM -0.93
- CADD 4.47
- SIFT 0.29
- EVE 0.20
- ClinVar: Conflicting classifications of pathogenicity (Familial melanoma; Melanoma-pancreatic cancer syndrome; Melanoma)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3e-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)