G63S (p.Gly63Ser) variant of CD40 (P25942)
G63S (p.Gly63Ser) 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 0.10 / 1. The record also includes population frequency data and structural context.
G63S (p.Gly63Ser) variant details
- p.Gly63Ser
- rs756898850
- ClinGen CA9888391
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10095
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.13
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.67
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available