A42S (p.Ala42Ser) variant of CDKN2A (Tumor suppressor ARF)
A42S (p.Ala42Ser) 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 Familial melanoma; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature.
A42S (p.Ala42Ser) variant details
- p.Ala42Ser
- rs905621048
- ClinGen CA373086899
- ClinVar RCV001010541
- ClinVar RCV001862770
- Uncertain significance
- Familial melanoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- AlphaMissense 0.20
- MetaLR 0.22
- MetaSVM -0.88
- SIFT 0.18
- EVE 0.26
- ClinVar: Uncertain significance (Familial melanoma; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)