D69G (p.Asp69Gly) variant of CD40 (P25942)
D69G (p.Asp69Gly) in CD40 (P25942) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
D69G (p.Asp69Gly) variant details
- p.Asp69Gly
- gnomAD 20-46122308-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.25
- MetaLR 0.24
- MetaSVM -0.87
- CADD 0.10
- PolyPhen-2 0.00
- SIFT 0.55
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available