G63D (p.Gly63Asp) variant of CD40 (P25942)
G63D (p.Gly63Asp) in CD40 (P25942) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
G63D (p.Gly63Asp) variant details
- p.Gly63Asp
- rs1261429888
- ClinGen CA409203646
- ClinVar RCV000780087
- TOPMed rs1261429888
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.14
- CADD 0.22
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available