C8G (p.Cys8Gly) variant of CD40 (P25942)
C8G (p.Cys8Gly) 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 0.54 / 1. The record also includes population frequency data and structural context.
C8G (p.Cys8Gly) variant details
- p.Cys8Gly
- rs113207193
- ClinGen CA9888331
- ClinVar RCV001911699
- 1000Genomes rs113207193
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.47
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 0.25)
- Structural context available