P46L (p.Pro46Leu) variant of CEBPA (P49715)
P46L (p.Pro46Leu) in CEBPA (P49715) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Acute myeloid leukemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P46L (p.Pro46Leu) variant details
- p.Pro46Leu
- Ensembl rs2145264231
- Uncertain significance
- Inborn genetic diseases; Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.04
- MetaLR 0.05
- MetaSVM -1.10
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.53
- ClinVar: Uncertain significance (Inborn genetic diseases; Acute myeloid leukemia)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.4e-05)
- Structural context available