L22R (p.Leu22Arg) variant of MEN1 (Menin)
L22R (p.Leu22Arg) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Multiple endocrine neoplasia, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
L22R (p.Leu22Arg) variant details
- p.Leu22Arg
- rs104894256
- ClinGen CA009546
- cosmic curated COSV56343
- ClinVar RCV000018157
- Pathogenic/Likely pathogenic
- not provided; Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic/Likely pathogenic (not provided; Multiple endocrine neoplasia, type 1)
- EBI: Pathogenic (in MEN1)
- UniProt: Pathogenic (in MEN1)
- Structural context available
- Cited in: Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus. (PMID 14992727)
- Cited in: Positional cloning of the gene for multiple endocrine neoplasia-type 1. (PMID 9103196)