A176T (p.Ala176Thr) variant of MEN1 (Menin)
A176T (p.Ala176Thr) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
A176T (p.Ala176Thr) variant details
- p.Ala176Thr
- rs376872829
- ClinGen CA381185958
- cosmic curated COSV53648
- ClinVar RCV001023830
- Conflicting interpretations
- not provided; Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposi
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.94
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.03
- CADD 25.70
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Multiple endocrine neoplasia, type 1; Hereditary c)
- EBI: Pathogenic (in MEN1)
- UniProt: Pathogenic (in MEN1)
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)
- Cited in: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)