R52S (p.Arg52Ser) variant of MEN1 (Menin)
R52S (p.Arg52Ser) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R52S (p.Arg52Ser) variant details
- p.Arg52Ser
- rs1555166664
- ClinGen CA381187774
- cosmic curated COSV10965
- ClinVar RCV002300432
- Uncertain significance
- Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.81
- CADD 24.70
- PolyPhen-2 0.17
- SIFT 0.03
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- 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)