T4I (p.Thr4Ile) variant of MEFV (Pyrin)
T4I (p.Thr4Ile) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
T4I (p.Thr4Ile) variant details
- p.Thr4Ile
- TOPMed rs1386260680
- gnomAD rs1386260680
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.21
- CADD 21.00
- PolyPhen-2 0.93
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available