S78G (p.Ser78Gly) variant of CREBBP (CREB-binding protein)
S78G (p.Ser78Gly) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S78G (p.Ser78Gly) variant details
- p.Ser78Gly
- ExAC rs764774054
- gnomAD rs764774054
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.35
- CADD 23.30
- PolyPhen-2 0.44
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available