V9F (p.Val9Phe) variant of CD40 (P25942)
V9F (p.Val9Phe) in CD40 (P25942) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
V9F (p.Val9Phe) variant details
- p.Val9Phe
- TOPMed rs910523454
- gnomAD rs910523454
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.51
- CADD 22.80
- PolyPhen-2 0.55
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available