G111E (p.Gly111Glu) variant of MEFV (Pyrin)
G111E (p.Gly111Glu) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Behcet disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
G111E (p.Gly111Glu) variant details
- p.Gly111Glu
- rs751454741
- ClinGen CA7860454
- ClinVar RCV000495851
- ExAC rs751454741
- Pathogenic
- Behcet disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.0846
- REVEL 0.10
- CADD 0.31
- PolyPhen-2 0.01
- SIFT 0.36
- ClinVar: Pathogenic (Behcet disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available