D418N (p.Asp418Asn) variant of MEN1 (Menin)
D418N (p.Asp418Asn) 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.
D418N (p.Asp418Asn) variant details
- p.Asp418Asn
- rs104894264
- ClinGen CA009084
- cosmic curated COSV53641
- ClinVar RCV000018183
- Pathogenic
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic (Hereditary cancer-predisposing syndrome; Multiple endocrine neop)
- EBI: Pathogenic (in MEN1)
- UniProt: Pathogenic (in MEN1)
- Structural context available
- Cited in: Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1. (PMID 12050235)
- Cited in: Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and… (PMID 12112656)