Q97K (p.Gln97Lys) variant of MEFV (Pyrin)
Q97K (p.Gln97Lys) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Acute febrile neutrophilic dermatosis; Familial Mediterranean feve. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
Q97K (p.Gln97Lys) variant details
- p.Gln97Lys
- rs747515115
- ClinGen CA7860463
- ClinVar RCV000514677
- ClinVar RCV000632795
- Conflicting interpretations
- not provided; Acute febrile neutrophilic dermatosis; Familial Mediterranean feve
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.14
- CADD 9.78
- PolyPhen-2 0.04
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not provided; Acute febrile neutrophilic dermatosis; Familial Me)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 0.00015)
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)