A164S (p.Ala164Ser) variant of MEN1 (Menin)
A164S (p.Ala164Ser) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
A164S (p.Ala164Ser) variant details
- p.Ala164Ser
- rs1311408888
- ClinGen CA381186123
- cosmic curated COSV99036
- ClinVar RCV000807278
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.85
- CADD 25.00
- PolyPhen-2 0.86
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Multiple endocrine neop)
- EBI: Likely benign (in MEN1)
- UniProt: Likely benign (in MEN1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)