G63R (p.Gly63Arg) variant of CD40 (P25942)
G63R (p.Gly63Arg) 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.
G63R (p.Gly63Arg) variant details
- p.Gly63Arg
- rs756898850
- ClinGen CA409203643
- ClinVar RCV003009895
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.18
- CADD 0.01
- PolyPhen-2 0.06
- SIFT 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available