T59S (p.Thr59Ser) variant of MEFV (Pyrin)
T59S (p.Thr59Ser) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes structural context.
T59S (p.Thr59Ser) variant details
- p.Thr59Ser
- rs1959116488
- ClinGen CA394483953
- ClinVar RCV001260305
- Ensembl rs1959116488
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- AlphaMissense 0.10
- MetaLR 0.06
- MetaSVM -1.01
- PolyPhen-2 0.96
- SIFT 0.03
- MutPred 0.47
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available