T101A (p.Thr101Ala) variant of MEFV (Pyrin)
T101A (p.Thr101Ala) 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
T101A (p.Thr101Ala) variant details
- p.Thr101Ala
- rs1342717419
- ClinGen CA394482671
- ClinVar RCV001348927
- gnomAD rs1342717419
- Uncertain significance
- Familial Mediterranean fever
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.21
- AlphaMissense 0.35
- MetaLR 0.00
- MetaSVM -1.27
- CADD 0.72
- PolyPhen-2 0.29
- ClinVar: Uncertain significance (Familial Mediterranean fever)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)