V43L (p.Val43Leu) variant of CDKN2A (Tumor suppressor ARF)
V43L (p.Val43Leu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature.
V43L (p.Val43Leu) variant details
- p.Val43Leu
- rs1820529552
- ClinGen CA373086893
- ClinVar RCV001233306
- ClinVar RCV002379888
- Uncertain significance
- Familial melanoma; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- AlphaMissense 0.25
- MetaLR 0.31
- MetaSVM -0.72
- SIFT 0.19
- EVE 0.40
- ClinVar: Uncertain significance (Familial melanoma; Hereditary cancer-predisposing syndrome; not)
- 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)