A49V (p.Ala49Val) variant of MEN1 (Menin)
A49V (p.Ala49Val) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
A49V (p.Ala49Val) variant details
- p.Ala49Val
- rs1555166674
- ClinGen CA381187800
- ClinVar RCV000632133
- ClinVar RCV003380647
- Uncertain significance
- Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.84
- CADD 29.20
- PolyPhen-2 0.47
- SIFT 0.01
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 1; Hereditary cancer-predispo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)