L32F (p.Leu32Phe) variant of CDKN1B (P46527)
L32F (p.Leu32Phe) 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; Multiple endocrine neoplasia type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
L32F (p.Leu32Phe) variant details
- p.Leu32Phe
- rs2136355531
- ClinGen CA383968517
- cosmic curated COSV57430
- ClinVar RCV001910531
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- AlphaMissense 0.99
- MetaLR 0.84
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Multiple endocrine neop)
- 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)