A160P (p.Ala160Pro) variant of MEN1 (Menin)
A160P (p.Ala160Pro) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Hereditary cancer-predisposing syndrome; Multiple endocrine neopla. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
A160P (p.Ala160Pro) variant details
- p.Ala160Pro
- rs1565648656
- ClinGen CA381186185
- ClinVar RCV000702232
- ClinVar RCV001269817
- Pathogenic
- not provided; Hereditary cancer-predisposing syndrome; Multiple endocrine neopla
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic (not provided; Hereditary cancer-predisposing syndrome; Multiple)
- EBI: Pathogenic (in MEN1)
- UniProt: Pathogenic (in MEN1)
- 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)