D172H (p.Asp172His) variant of MEN1 (Menin)
D172H (p.Asp172His) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Multiple endocrine neoplasia, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
D172H (p.Asp172His) variant details
- p.Asp172His
- rs1114167494
- ClinGen CA381186019
- ClinVar RCV001964122
- Ensembl rs1114167494
- Uncertain significance
- Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 1)
- EBI: Pathogenic (in MEN1)
- UniProt: Pathogenic (in MEN1)
- 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)