A42T (p.Ala42Thr) variant of CDKN2A (Tumor suppressor ARF)
A42T (p.Ala42Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and published literature.
A42T (p.Ala42Thr) variant details
- p.Ala42Thr
- rs905621048
- ClinGen CA190745885
- ClinVar RCV001894313
- ClinVar RCV002397792
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- AlphaMissense 0.20
- MetaLR 0.22
- MetaSVM -0.88
- CADD 12.20
- SIFT 0.18
- EVE 0.26
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial melanoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)