T57R (p.Thr57Arg) variant of CD40 (P25942)
T57R (p.Thr57Arg) in CD40 (P25942) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
T57R (p.Thr57Arg) variant details
- p.Thr57Arg
- gnomAD 20-46122272-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.59
- MetaLR 0.91
- MetaSVM 0.57
- CADD 24.10
- 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