R75Q (p.Arg75Gln) variant of MEFV (Pyrin)
R75Q (p.Arg75Gln) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Familial Mediterranean fever. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R75Q (p.Arg75Gln) variant details
- p.Arg75Gln
- rs376891162
- ClinGen CA7860505
- cosmic curated COSV10805
- ClinVar RCV001066787
- Uncertain significance
- not provided; Familial Mediterranean fever
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.16
- CADD 20.80
- PolyPhen-2 0.76
- SIFT 0.13
- ClinVar: Uncertain significance (not provided; Familial Mediterranean fever)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 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)