L45V (p.Leu45Val) variant of CDKN2A (Tumor suppressor ARF)
L45V (p.Leu45Val) 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; Melanoma and neural. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L45V (p.Leu45Val) variant details
- p.Leu45Val
- rs1554659193
- ClinGen CA373086883
- ClinVar RCV000563932
- ClinVar RCV001318514
- Uncertain significance
- Familial melanoma; Hereditary cancer-predisposing syndrome; Melanoma and neural
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- CADD 24.90
- ClinVar: Uncertain significance (Familial melanoma; Hereditary cancer-predisposing syndrome; Mela)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)