R12W (p.Arg12Trp) variant of CEBPE (Q15744)
R12W (p.Arg12Trp) in CEBPE (Q15744) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of Specific granule deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R12W (p.Arg12Trp) variant details
- p.Arg12Trp
- 1000Genomes rs200723095
- ExAC rs200723095
- TOPMed rs200723095
- gnomAD rs200723095
- Benign
- Specific granule deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.31
- MetaLR 0.13
- MetaSVM -0.98
- CADD 25.50
- ClinVar: Benign (Specific granule deficiency)
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available