S27P (p.Ser27Pro) variant of CDKN1B (P46527)
S27P (p.Ser27Pro) 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 0.60 / 1. The record also includes published literature and structural context.
S27P (p.Ser27Pro) variant details
- p.Ser27Pro
- rs1946487784
- ClinGen CA383968389
- ClinVar RCV003301872
- Ensembl rs1946487784
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- AlphaMissense 0.20
- MetaLR 0.73
- MetaSVM 0.55
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.34
- 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)