D68N (p.Asp68Asn) variant of CDKN2A (Tumor suppressor ARF)
D68N (p.Asp68Asn) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Melanoma and neural system tumor syndrome; Familial melanoma; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature.
D68N (p.Asp68Asn) variant details
- p.Asp68Asn
- rs104894095
- ClinGen CA190730408
- cosmic curated COSV58683
- ClinVar RCV000638996
- Pathogenic/Likely pathogenic
- Melanoma and neural system tumor syndrome; Familial melanoma; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- AlphaMissense 0.54
- MetaLR 0.37
- MetaSVM -0.43
- SIFT 0.01
- EVE 0.56
- ClinVar: Pathogenic/Likely pathogenic (Melanoma and neural system tumor syndrome; Familial melanoma; no)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)