R4K (p.Arg4Lys) variant of CDKN2A (Tumor suppressor ARF)
R4K (p.Arg4Lys) 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 0.50 / 1. The record also includes published literature.
R4K (p.Arg4Lys) variant details
- p.Arg4Lys
- rs149063626
- ClinGen CA190745949
- ClinVar RCV000698196
- ClinVar RCV004026435
- Uncertain significance
- Familial melanoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- AlphaMissense 0.41
- MetaLR 0.63
- MetaSVM -0.16
- SIFT 0.06
- 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)