G100S (p.Gly100Ser) variant of MEFV (Pyrin)
G100S (p.Gly100Ser) in MEFV (Pyrin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
G100S (p.Gly100Ser) variant details
- p.Gly100Ser
- ExAC rs772332566
- TOPMed rs772332566
- gnomAD rs772332566
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.13
- AlphaMissense 0.10
- MetaLR 0.00
- MetaSVM -0.92
- CADD 0.82
- PolyPhen-2 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available