P22L (p.Pro22Leu) variant of CD40 (P25942)
P22L (p.Pro22Leu) in CD40 (P25942) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
P22L (p.Pro22Leu) variant details
- p.Pro22Leu
- ExAC rs759483970
- gnomAD rs759483970
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.22
- CADD 16.80
- PolyPhen-2 0.12
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available