A89T (p.Ala89Thr) variant of MEFV (Pyrin)
A89T (p.Ala89Thr) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Acute febrile neutrophilic dermatosis; Familial Mediterranean fever; Familial Me. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A89T (p.Ala89Thr) variant details
- p.Ala89Thr
- rs104895124
- ClinGen CA280577
- cosmic curated COSV54822
- ClinVar RCV000083765
- Conflicting interpretations
- Acute febrile neutrophilic dermatosis; Familial Mediterranean fever; Familial Me
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.33
- CADD 21.50
- PolyPhen-2 0.86
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Acute febrile neutrophilic dermatosis; Familial Mediterranean fe)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)