H19H (p.His19His) variant of CD40 (P25942)
H19H (p.His19His) in CD40 (P25942) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
H19H (p.His19His) variant details
- p.His19His
- rs1204102934
- gnomAD 20-46121825-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.266
- AlphaMissense 0.12
- MetaLR 0.35
- MetaSVM -0.83
- CADD 9.99
- PolyPhen-2 0.14
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available