F5Y (p.Phe5Tyr) variant of CDKN2A (Tumor suppressor ARF)
F5Y (p.Phe5Tyr) 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 0.35 / 1. The record also includes published literature.
F5Y (p.Phe5Tyr) variant details
- p.Phe5Tyr
- rs2131149044
- ClinGen CA373087112
- ClinVar RCV001931721
- ClinVar RCV002388894
- Uncertain significance
- Familial melanoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- AlphaMissense 0.42
- MetaLR 0.27
- MetaSVM -0.76
- SIFT 0.04
- 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)