G54V (p.Gly54Val) variant of CEBPA (P49715)
G54V (p.Gly54Val) in CEBPA (P49715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G54V (p.Gly54Val) variant details
- p.Gly54Val
- Ensembl rs2145264041
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.08
- MetaLR 0.03
- MetaSVM -1.10
- CADD 23.50
- PolyPhen-2 0.20
- SIFT 0.03
- Population evidence available
- Structural context available