P20S (p.Pro20Ser) variant of CREBBP (CREB-binding protein)
P20S (p.Pro20Ser) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
P20S (p.Pro20Ser) variant details
- p.Pro20Ser
- Ensembl rs2055489891
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.48
- CADD 25.80
- PolyPhen-2 0.72
- SIFT 0.04
- Population evidence available
- Structural context available