R90W (p.Arg90Trp) variant of CD40 (P25942)
R90W (p.Arg90Trp) in CD40 (P25942) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R90W (p.Arg90Trp) variant details
- p.Arg90Trp
- rs144542285
- ClinGen CA9888427
- cosmic curated COSV64847
- ClinVar RCV002658634
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.32
- CADD 17.40
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available