Q44E (p.Gln44Glu) variant of MEFV (Pyrin)
Q44E (p.Gln44Glu) in MEFV (Pyrin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Q44E (p.Gln44Glu) variant details
- p.Gln44Glu
- gnomAD rs1172820862
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.08
- AlphaMissense 0.10
- MetaLR 0.10
- MetaSVM -1.03
- CADD 16.20
- PolyPhen-2 0.83
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available