T12I (p.Thr12Ile) variant of MEFV (Pyrin)
T12I (p.Thr12Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
T12I (p.Thr12Ile) variant details
- p.Thr12Ile
- rs533833365
- ClinGen CA7860551
- ClinVar RCV002963048
- 1000Genomes rs533833365
- Uncertain significance
- Familial Mediterranean fever
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.16
- CADD 24.00
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (Familial Mediterranean fever)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)