V18I (p.Val18Ile) variant of CD40 (P25942)
V18I (p.Val18Ile) in CD40 (P25942) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
V18I (p.Val18Ile) variant details
- p.Val18Ile
- TOPMed rs1440428121
- gnomAD rs1440428121
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.25
- CADD 25.50
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available