L33S (p.Leu33Ser) variant of CREBBP (CREB-binding protein)
L33S (p.Leu33Ser) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
L33S (p.Leu33Ser) variant details
- p.Leu33Ser
- ExAC rs746019318
- gnomAD rs746019318
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.59
- CADD 27.90
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available