H181R (p.His181Arg) variant of MEN1 (Menin)
H181R (p.His181Arg) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposing syndrome; n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
H181R (p.His181Arg) variant details
- p.His181Arg
- rs1941861451
- ClinGen CA381185855
- ClinVar RCV001069023
- ClinVar RCV001574143
- Pathogenic/Likely pathogenic
- Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposing syndrome; n
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.93
- CADD 25.80
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Multiple endocrine neoplasia, type 1; Hereditary cancer-predispo)
- EBI: Pathogenic (in MEN1)
- UniProt: Pathogenic (in MEN1)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. (PMID 15714081)
- Cited in: Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defects. (PMID 10090472)