P35L (p.Pro35Leu) variant of CDKN1B (P46527)
P35L (p.Pro35Leu) 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; not provided; Multiple endocrine neopla. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
P35L (p.Pro35Leu) variant details
- p.Pro35Leu
- rs375297371
- ClinGen CA6457378
- cosmic curated COSV57431
- NCI-TCGA Cosmic COSV9996
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Multiple endocrine neopla
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.72
- AlphaMissense 0.42
- MetaLR 0.89
- MetaSVM 0.98
- CADD 24.90
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Multiple)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.6e-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)