T55A (p.Thr55Ala) variant of MEFV (Pyrin)
T55A (p.Thr55Ala) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial Mediterranean fever; Acute febrile neutrophilic dermatosis; Familial Me. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
T55A (p.Thr55Ala) variant details
- p.Thr55Ala
- rs2543159626
- ClinGen CA394484059
- ClinVar RCV002297652
- ClinVar RCV005017194
- Uncertain significance
- Familial Mediterranean fever; Acute febrile neutrophilic dermatosis; Familial Me
- Missense
- Variant Prioritization Score for Impact Estimate 0.0617
- REVEL 0.07
- CADD 0.01
- PolyPhen-2 0.06
- SIFT 0.17
- ClinVar: Uncertain significance (Familial Mediterranean fever; Acute febrile neutrophilic dermato)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)