T55I (p.Thr55Ile) variant of MEFV (Pyrin)
T55I (p.Thr55Ile) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
T55I (p.Thr55Ile) variant details
- p.Thr55Ile
- ExAC rs757933176
- gnomAD rs757933176
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.19
- CADD 0.19
- PolyPhen-2 0.40
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available