S81G (p.Ser81Gly) variant of CREBBP (CREB-binding protein)
S81G (p.Ser81Gly) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S81G (p.Ser81Gly) variant details
- p.Ser81Gly
- ExAC rs768084504
- gnomAD rs768084504
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.17
- CADD 15.90
- PolyPhen-2 0.01
- SIFT 0.16
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available