R90Q (p.Arg90Gln) variant of CD40 (P25942)
R90Q (p.Arg90Gln) 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 0.12 / 1. The record also includes population frequency data and structural context.
R90Q (p.Arg90Gln) variant details
- p.Arg90Gln
- rs761229326
- ClinGen CA9888428
- cosmic curated COSV64848
- ClinVar RCV001934182
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.15
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.77
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available