N51H (p.Asn51His) variant of MEN1 (Menin)
N51H (p.Asn51His) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
N51H (p.Asn51His) variant details
- p.Asn51His
- rs902475323
- ClinGen CA223917175
- ClinVar RCV004522689
- Ensembl rs902475323
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 1.07
- PolyPhen-2 0.59
- SIFT 0.04
- EVE 0.67
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)