G2R (p.Gly2Arg) variant of MEN1 (Menin)
G2R (p.Gly2Arg) in MEN1 (Menin) is a missense change. Clinical records from ClinVar 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 0.85 / 1. The record also includes population frequency data and structural context.
G2R (p.Gly2Arg) variant details
- p.Gly2Arg
- cosmic curated COSV10732
- Uncertain significance
- Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.88
- CADD 29.30
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 1)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available