H46R (p.His46Arg) variant of MEN1 (Menin)
H46R (p.His46Arg) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Multiple endocrine neoplasia, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
H46R (p.His46Arg) variant details
- p.His46Arg
- rs2136192730
- ClinGen CA381187839
- ClinVar RCV003632740
- Likely pathogenic
- Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 0.73
- SIFT 0.01
- EVE 0.57
- ClinVar: Likely pathogenic (Multiple endocrine neoplasia, type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)