Q41R (p.Gln41Arg) variant of CEBPA (P49715)
Q41R (p.Gln41Arg) in CEBPA (P49715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
Q41R (p.Gln41Arg) variant details
- p.Gln41Arg
- TOPMed rs1401980765
- gnomAD rs1401980765
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.05
- MetaLR 0.04
- MetaSVM -1.06
- CADD 23.70
- PolyPhen-2 0.11
- SIFT 0.63
- Most common in the South Asian population (allele frequency 2.8e-05)
- Structural context available