F5L (p.Phe5Leu) variant of CDKN2A (Tumor suppressor ARF)
F5L (p.Phe5Leu) 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; not provided; Familial melanoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature.
F5L (p.Phe5Leu) variant details
- p.Phe5Leu
- rs1587358694
- ClinGen CA373087109
- ClinVar RCV000824401
- ClinVar RCV002257993
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- AlphaMissense 0.88
- MetaLR 0.20
- MetaSVM -0.93
- SIFT 0.27
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Familial)
- EBI: Likely benign
- UniProt: Likely benign
- 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)