G38V (p.Gly38Val) variant of CEBPA (P49715)
G38V (p.Gly38Val) 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 0.30 / 1. The record also includes population frequency data and structural context.
G38V (p.Gly38Val) variant details
- p.Gly38Val
- Ensembl rs1967199337
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.04
- AlphaMissense 0.78
- MetaLR 0.16
- MetaSVM -0.76
- CADD 23.50
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3.5e-05)
- Structural context available