A17V (p.Ala17Val) variant of CD40 (P25942)
A17V (p.Ala17Val) in CD40 (P25942) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- gnomAD 20-46118393-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.23
- CADD 23.90
- PolyPhen-2 0.19
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available