H139D (p.His139Asp) variant of MEN1 (Menin)
H139D (p.His139Asp) 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; not provided; Multiple endocrine neopla. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
H139D (p.His139Asp) variant details
- p.His139Asp
- rs104894263
- ClinGen CA009410
- ClinVar RCV000018179
- ClinVar RCV000491226
- Pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Multiple endocrine neopla
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 0.08
- SIFT 0.00
- EVE 0.79
- ClinVar: Pathogenic (Hereditary cancer-predisposing syndrome; not provided; Multiple)
- EBI: Pathogenic (in MEN1)
- UniProt: Pathogenic (in MEN1)
- Structural context available
- Cited in: Pituitary macroadenoma in a 5-year-old: an early expression of multiple endocrine neoplasia type 1. (PMID 11134142)
- Cited in: Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus. (PMID 14992727)