V6L (p.Val6Leu) variant of CDKN1B (P46527)
V6L (p.Val6Leu) in CDKN1B (P46527) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. 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.
V6L (p.Val6Leu) variant details
- p.Val6Leu
- rs2136355356
- ClinGen CA383967925
- ClinVar RCV001993415
- ClinVar RCV005792248
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.13
- AlphaMissense 0.47
- MetaLR 0.49
- MetaSVM 0.00
- CADD 16.30
- PolyPhen-2 0.95
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)