H78Q (p.His78Gln) variant of CD40 (P25942)
H78Q (p.His78Gln) in CD40 (P25942) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
H78Q (p.His78Gln) variant details
- p.His78Gln
- Ensembl rs17177493
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.11
- CADD 18.70
- PolyPhen-2 0.60
- SIFT 0.11
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available