A49S (p.Ala49Ser) variant of MEN1 (Menin)
A49S (p.Ala49Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
A49S (p.Ala49Ser) variant details
- p.Ala49Ser
- rs1942011819
- ClinGen CA381187806
- ClinVar RCV002627787
- Ensembl rs1942011819
- Uncertain significance
- Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- AlphaMissense 0.54
- MetaLR 0.95
- MetaSVM 1.04
- PolyPhen-2 0.56
- SIFT 0.02
- EVE 0.41
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)