L47P (p.Leu47Pro) variant of CDKN2A (Tumor suppressor ARF)
L47P (p.Leu47Pro) 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; not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
L47P (p.Leu47Pro) variant details
- p.Leu47Pro
- rs2131148222
- ClinGen CA373086870
- ClinVar RCV002040764
- ClinVar RCV003229080
- Uncertain significance
- Familial melanoma; not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- AlphaMissense 0.56
- MetaLR 0.75
- MetaSVM 0.30
- SIFT 0.00
- EVE 0.71
- ClinVar: Uncertain significance (Familial melanoma; not provided; Hereditary cancer-predisposing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- 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)