P320R (p.Pro320Arg) variant of MEN1 (Menin)
P320R (p.Pro320Arg) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Multiple endocrine neoplasia, type 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
P320R (p.Pro320Arg) variant details
- p.Pro320Arg
- rs1114167469
- ClinGen CA381183362
- cosmic curated COSV53645
- ClinVar RCV001269633
- Conflicting interpretations
- Multiple endocrine neoplasia, type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.939
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Conflicting classifications of pathogenicity (Multiple endocrine neoplasia, type 1; not provided)
- EBI: Pathogenic (in MEN1)
- UniProt: Pathogenic (in MEN1)
- Structural context available
- Cited in: Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. (PMID 15714081)
- Cited in: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)