T31I (p.Thr31Ile) variant of MEFV (Pyrin)
T31I (p.Thr31Ile) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
T31I (p.Thr31Ile) variant details
- p.Thr31Ile
- gnomAD rs1241661680
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.14
- CADD 21.80
- PolyPhen-2 0.99
- SIFT 0.12
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available