K8E (p.Lys8Glu) variant of MEN1 (Menin)
K8E (p.Lys8Glu) 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 0.80 / 1. The record also includes published literature and structural context.
K8E (p.Lys8Glu) variant details
- p.Lys8Glu
- rs1942026565
- ClinGen CA381188284
- ClinVar RCV001210328
- Ensembl rs1942026565
- Uncertain significance
- Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- AlphaMissense 0.65
- MetaLR 0.95
- MetaSVM 1.00
- PolyPhen-2 0.01
- SIFT 0.01
- EVE 0.72
- 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)