R35P (p.Arg35Pro) variant of CEBPA (P49715)
R35P (p.Arg35Pro) 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 0.35 / 1. The record also includes population frequency data and structural context.
R35P (p.Arg35Pro) variant details
- p.Arg35Pro
- TOPMed rs1967200345
- gnomAD rs1967200345
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.17
- MetaLR 0.13
- MetaSVM -1.04
- CADD 24.60
- PolyPhen-2 0.78
- SIFT 0.27
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available