A164D (p.Ala164Asp) variant of MEN1 (Menin)
A164D (p.Ala164Asp) 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 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
A164D (p.Ala164Asp) variant details
- p.Ala164Asp
- rs1565648547
- ClinGen CA381186121
- cosmic curated COSV53640
- ClinVar RCV001220086
- Pathogenic
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- REVEL 0.97
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.08
- CADD 27.20
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Hereditary cancer-predisposing syndrome; Multiple endocrine neop)
- EBI: Pathogenic (in MEN1)
- UniProt: Pathogenic (in MEN1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and… (PMID 12112656)
- Cited in: Characterization of mutations in patients with multiple endocrine neoplasia type 1. (PMID 9463336)