T96I (p.Thr96Ile) variant of MEFV (Pyrin)
T96I (p.Thr96Ile) in MEFV (Pyrin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
T96I (p.Thr96Ile) variant details
- p.Thr96Ile
- rs1167470161
- NCI-TCGA Cosmic COSV9956
- TOPMed rs1167470161
- gnomAD rs1167470161
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0753
- REVEL 0.08
- CADD 0.38
- PolyPhen-2 0.00
- SIFT 0.73
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available