V46L (p.Val46Leu) variant of CDKN2A (Tumor suppressor ARF)
V46L (p.Val46Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
V46L (p.Val46Leu) variant details
- p.Val46Leu
- rs786203467
- ClinGen CA373086878
- ClinVar RCV002042028
- TOPMed rs786203467
- Uncertain significance
- Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- AlphaMissense 0.48
- MetaLR 0.44
- MetaSVM -0.52
- SIFT 0.01
- EVE 0.58
- ClinVar: Uncertain significance (Familial melanoma)
- 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)