G42A (p.Gly42Ala) variant of MEN1 (Menin)
G42A (p.Gly42Ala) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Multiple endocrine neoplasia, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
G42A (p.Gly42Ala) variant details
- p.Gly42Ala
- rs1565652689
- ClinGen CA381187883
- ClinVar RCV000802906
- Ensembl rs1565652689
- Pathogenic
- Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.04
- PolyPhen-2 0.80
- SIFT 0.00
- EVE 0.78
- ClinVar: Pathogenic (Multiple endocrine neoplasia, type 1)
- EBI: Pathogenic (in MEN1)
- UniProt: Pathogenic (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)