K29R (p.Lys29Arg) variant of CD40 (P25942)
K29R (p.Lys29Arg) in CD40 (P25942) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
K29R (p.Lys29Arg) variant details
- p.Lys29Arg
- gnomAD 20-46121854-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.26
- CADD 22.60
- PolyPhen-2 0.43
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available