G100R (p.Gly100Arg) variant of MEFV (Pyrin)
G100R (p.Gly100Arg) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial Mediterranean fever, autosomal dominant; Familial Mediterranean fever. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
G100R (p.Gly100Arg) variant details
- p.Gly100Arg
- rs772332566
- ClinGen CA7860462
- ClinVar RCV002262060
- ClinVar RCV002502075
- Conflicting interpretations
- Familial Mediterranean fever, autosomal dominant; Familial Mediterranean fever
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.17
- AlphaMissense 0.08
- MetaLR 0.00
- MetaSVM -0.94
- CADD 0.64
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Familial Mediterranean fever, autosomal dominant; Familial Medit)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)