H58Y (p.His58Tyr) variant of CEBPA (P49715)
H58Y (p.His58Tyr) in CEBPA (P49715) is a missense change. 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.
H58Y (p.His58Tyr) variant details
- p.His58Tyr
- Ensembl rs2145263976
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.06
- MetaLR 0.05
- MetaSVM -1.07
- CADD 23.60
- PolyPhen-2 0.13
- SIFT 0.00
- Population evidence available
- Structural context available