I77T (p.Ile77Thr) variant of MEFV (Pyrin)
I77T (p.Ile77Thr) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
I77T (p.Ile77Thr) variant details
- p.Ile77Thr
- ExAC rs756665512
- TOPMed rs756665512
- gnomAD rs756665512
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.22
- CADD 20.00
- PolyPhen-2 0.05
- SIFT 0.13
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available