L223P (p.Leu223Pro) variant of MEN1 (Menin)
L223P (p.Leu223Pro) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
L223P (p.Leu223Pro) variant details
- p.Leu223Pro
- rs886039415
- ClinGen CA10588532
- cosmic curated COSV53648
- ClinVar RCV000255095
- Pathogenic/Likely pathogenic
- not provided; Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposi
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic/Likely pathogenic (not provided; Multiple endocrine neoplasia, type 1; Hereditary c)
- EBI: Pathogenic (in MEN1)
- UniProt: Pathogenic (in MEN1)
- Structural context available
- Cited in: Criteria for mutation analysis in MEN 1-suspected patients: MEN 1 case-finding. (PMID 10849016)
- Cited in: Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and… (PMID 12112656)