P24S (p.Pro24Ser) variant of CDKN1B (P46527)
P24S (p.Pro24Ser) in CDKN1B (P46527) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Multiple endocrine neoplasia type 4; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
P24S (p.Pro24Ser) variant details
- p.Pro24Ser
- rs2136355480
- ClinGen CA383968315
- ClinVar RCV001360029
- ClinVar RCV002368162
- Uncertain significance
- Multiple endocrine neoplasia type 4; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- AlphaMissense 0.27
- MetaLR 0.62
- MetaSVM 0.12
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.33
- ClinVar: Uncertain significance (Multiple endocrine neoplasia type 4; Hereditary cancer-predispos)
- 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)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)