T70N (p.Thr70Asn) variant of CD40 (P25942)
T70N (p.Thr70Asn) in CD40 (P25942) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
T70N (p.Thr70Asn) variant details
- p.Thr70Asn
- ExAC rs747024806
- TOPMed rs747024806
- gnomAD rs747024806
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.10
- CADD 14.50
- PolyPhen-2 0.07
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available