Y30F (p.Tyr30Phe) variant of CEBPB (P17676)
Y30F (p.Tyr30Phe) in CEBPB (P17676) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
Y30F (p.Tyr30Phe) variant details
- p.Tyr30Phe
- ExAC rs781028963
- TOPMed rs781028963
- gnomAD rs781028963
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.30
- CADD 24.80
- PolyPhen-2 0.98
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available