G63V (p.Gly63Val) variant of CD40 (P25942)
G63V (p.Gly63Val) in CD40 (P25942) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
G63V (p.Gly63Val) variant details
- p.Gly63Val
- TOPMed rs1261429888
- gnomAD rs1261429888
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.23
- CADD 1.14
- PolyPhen-2 0.03
- SIFT 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available