Q97E (p.Gln97Glu) variant of MEFV (Pyrin)
Q97E (p.Gln97Glu) 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 0.12 / 1. The record also includes population frequency data and structural context.
Q97E (p.Gln97Glu) variant details
- p.Gln97Glu
- rs747515115
- NCI-TCGA Cosmic COSV5482
- ExAC rs747515115
- TOPMed rs747515115
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.11
- CADD 2.38
- PolyPhen-2 0.00
- SIFT 0.19
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available