T70I (p.Thr70Ile) variant of MEFV (Pyrin)
T70I (p.Thr70Ile) in MEFV (Pyrin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
T70I (p.Thr70Ile) variant details
- p.Thr70Ile
- rs775224100
- NCI-TCGA Cosmic COSV5482
- cosmic curated COSV54821
- ExAC rs775224100
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.38
- AlphaMissense 0.74
- MetaLR 0.40
- MetaSVM -0.31
- CADD 24.80
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available