P45Q (p.Pro45Gln) variant of CEBPA (P49715)
P45Q (p.Pro45Gln) in CEBPA (P49715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P45Q (p.Pro45Gln) variant details
- p.Pro45Gln
- Ensembl rs1967197509
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.04
- MetaLR 0.07
- MetaSVM -0.99
- CADD 23.80
- PolyPhen-2 0.09
- SIFT 0.24
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.6e-07)
- Structural context available