A28V (p.Ala28Val) variant of CDKN1B (P46527)
A28V (p.Ala28Val) in CDKN1B (P46527) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome; Multiple endocrine neopla. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- rs1592280774
- ClinGen CA383968407
- ClinVar RCV001210314
- ClinVar RCV001773471
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Multiple endocrine neopla
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.58
- AlphaMissense 0.51
- MetaLR 0.50
- MetaSVM -0.15
- CADD 26.50
- PolyPhen-2 0.93
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Multiple)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- 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)