L54F (p.Leu54Phe) variant of CREBBP (CREB-binding protein)
L54F (p.Leu54Phe) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L54F (p.Leu54Phe) variant details
- p.Leu54Phe
- TOPMed rs1464086939
- gnomAD rs1464086939
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.36
- CADD 23.60
- PolyPhen-2 0.86
- SIFT 0.45
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available