P35R (p.Pro35Arg) variant of CDKN1B (P46527)
P35R (p.Pro35Arg) 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 0.74 / 1. The record also includes published literature and structural context.
P35R (p.Pro35Arg) variant details
- p.Pro35Arg
- rs375297371
- ClinGen CA383968625
- ClinVar RCV002401043
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- AlphaMissense 0.42
- MetaLR 0.89
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.40
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)