P12L (p.Pro12Leu) variant of MEN1 (Menin)
P12L (p.Pro12Leu) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Multiple endocrine neoplasia, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- rs794728614
- ClinGen CA009390
- cosmic curated COSV10732
- ClinVar RCV000538512
- Pathogenic
- Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 0.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Pathogenic (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: Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription. (PMID 9989505)