H80Q (p.His80Gln) variant of CD40 (P25942)
H80Q (p.His80Gln) in CD40 (P25942) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
H80Q (p.His80Gln) variant details
- p.His80Gln
- TOPMed rs2085335191
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.54
- CADD 22.90
- PolyPhen-2 0.87
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available