H19R (p.His19Arg) variant of CD40 (P25942)
H19R (p.His19Arg) in CD40 (P25942) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
H19R (p.His19Arg) variant details
- p.His19Arg
- ExAC rs774936391
- gnomAD rs774936391
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.15
- CADD 18.50
- PolyPhen-2 0.29
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available