R21G (p.Arg21Gly) variant of MEN1 (Menin)
R21G (p.Arg21Gly) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R21G (p.Arg21Gly) variant details
- p.Arg21Gly
- rs541476418
- ClinGen CA16613641
- ClinVar RCV000477155
- 1000Genomes rs541476418
- Uncertain significance
- Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- AlphaMissense 0.25
- MetaLR 0.81
- MetaSVM 0.85
- PolyPhen-2 0.00
- SIFT 0.36
- EVE 0.11
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 1)
- EBI: Benign
- UniProt: Benign
- 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)