S27G (p.Ser27Gly) variant of CREBBP (CREB-binding protein)
S27G (p.Ser27Gly) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S27G (p.Ser27Gly) variant details
- p.Ser27Gly
- TOPMed rs878985635
- gnomAD rs878985635
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.23
- AlphaMissense 0.06
- MetaLR 0.23
- MetaSVM -0.85
- CADD 19.90
- PolyPhen-2 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available