C37W (p.Cys37Trp) variant of CD40 (P25942)
C37W (p.Cys37Trp) in CD40 (P25942) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
C37W (p.Cys37Trp) variant details
- p.Cys37Trp
- gnomAD 20-46121879-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.85
- MetaLR 1.00
- MetaSVM 0.82
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available