A368T (p.Ala368Thr) variant of MEN1 (Menin)
A368T (p.Ala368Thr) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
A368T (p.Ala368Thr) variant details
- p.Ala368Thr
- rs1114167473
- ClinGen CA381182623
- cosmic curated COSV10512
- ClinVar RCV000491157
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.926
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Conflicting classifications of pathogenicity (Multiple endocrine neoplasia, type 1; Hereditary cancer-predispo)
- EBI: Likely pathogenic (in MEN1)
- UniProt: Likely pathogenic (in MEN1)
- 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)