Q79H (p.Gln79His) variant of CD40 (P25942)
Q79H (p.Gln79His) 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.
Q79H (p.Gln79His) variant details
- p.Gln79His
- gnomAD 20-46122339-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.29
- MetaLR 0.45
- MetaSVM -0.27
- CADD 21.50
- PolyPhen-2 0.71
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available