S23L (p.Ser23Leu) variant of CREBBP (CREB-binding protein)
S23L (p.Ser23Leu) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S23L (p.Ser23Leu) variant details
- p.Ser23Leu
- TOPMed rs2055489627
- gnomAD rs2055489627
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.47
- CADD 28.50
- PolyPhen-2 0.58
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available