G32C (p.Gly32Cys) variant of CEBPA (P49715)
G32C (p.Gly32Cys) in CEBPA (P49715) 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 0.31 / 1. The record also includes population frequency data and structural context.
G32C (p.Gly32Cys) variant details
- p.Gly32Cys
- gnomAD rs1348778034
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.13
- AlphaMissense 0.30
- MetaLR 0.20
- MetaSVM -0.80
- CADD 23.00
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available