Y353S (p.Tyr353Ser) variant of MEN1 (Menin)
Y353S (p.Tyr353Ser) 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 0.90 / 1. The record also includes published literature and structural context.
Y353S (p.Tyr353Ser) variant details
- p.Tyr353Ser
- rs1592640870
- ClinGen CA381182960
- ClinVar RCV000816807
- Ensembl rs1592640870
- Uncertain significance
- Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- AlphaMissense 0.87
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 0.99
- SIFT 0.05
- EVE 0.72
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 1)
- EBI: Variant of uncertain significance (in MEN1)
- UniProt: Uncertain significance (in MEN1)
- 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)