T70I (p.Thr70Ile) variant of CD40 (P25942)
T70I (p.Thr70Ile) in CD40 (P25942) 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 0.25 / 1. The record also includes population frequency data and structural context.
T70I (p.Thr70Ile) variant details
- p.Thr70Ile
- cosmic curated COSV10592
- ExAC rs747024806
- TOPMed rs747024806
- gnomAD rs747024806
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.10
- CADD 15.80
- PolyPhen-2 0.10
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available