N72H (p.Asn72His) variant of CD40 (P25942)
N72H (p.Asn72His) in CD40 (P25942) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
N72H (p.Asn72His) variant details
- p.Asn72His
- gnomAD 20-46122316-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.32
- MetaLR 0.45
- MetaSVM -0.53
- CADD 24.60
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available