Q7* (p.Gln7Ter) variant of MEN1 (Menin)
Q7* (p.Gln7Ter) in MEN1 (Menin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
Q7* (p.Gln7Ter) variant details
- p.Gln7Ter
- rs1942027113
- ClinGen CA381188292
- ClinVar RCV001269824
- ClinVar RCV003517321
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.84
- CADD 36.00
- EBI: Pathogenic
- UniProt: 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)