H19Q (p.His19Gln) variant of CD40 (P25942)
H19Q (p.His19Gln) in CD40 (P25942) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
H19Q (p.His19Gln) variant details
- p.His19Gln
- rs1204102934
- ClinGen CA409202648
- ClinVar RCV001700681
- TOPMed rs1204102934
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- AlphaMissense 0.12
- MetaLR 0.35
- MetaSVM -0.83
- PolyPhen-2 0.14
- SIFT 0.06
- EVE 0.58
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available