A337D (p.Ala337Asp) variant of MEN1 (Menin)
A337D (p.Ala337Asp) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
A337D (p.Ala337Asp) variant details
- p.Ala337Asp
- rs2136118998
- ClinGen CA381183254
- ClinVar RCV001382548
- ClinVar RCV002319708
- Pathogenic
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Pathogenic (Hereditary cancer-predisposing syndrome; Multiple endocrine neop)
- 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)