T4S (p.Thr4Ser) variant of MEFV (Pyrin)
T4S (p.Thr4Ser) in MEFV (Pyrin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
T4S (p.Thr4Ser) variant details
- p.Thr4Ser
- TOPMed rs975892709
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.20
- CADD 22.30
- PolyPhen-2 0.51
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available