P85R (p.Pro85Arg) variant of CD40 (P25942)
P85R (p.Pro85Arg) in CD40 (P25942) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P85R (p.Pro85Arg) variant details
- p.Pro85Arg
- gnomAD 20-46122356-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.39
- MetaLR 0.46
- MetaSVM -0.31
- CADD 14.90
- PolyPhen-2 0.17
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available