L50R (p.Leu50Arg) variant of CDKN2A (Tumor suppressor ARF)
L50R (p.Leu50Arg) 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 0.36 / 1. The record also includes published literature and structural context.
L50R (p.Leu50Arg) variant details
- p.Leu50Arg
- rs1554659181
- ClinGen CA373086850
- ClinVar RCV000638974
- ClinVar RCV001775936
- Uncertain significance
- Familial melanoma; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- AlphaMissense 0.26
- MetaLR 0.22
- MetaSVM -0.85
- SIFT 0.04
- EVE 0.21
- ClinVar: Uncertain significance (Familial melanoma; Hereditary cancer-predisposing syndrome; not)
- 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)