G21S (p.Gly21Ser) variant of CREBBP (CREB-binding protein)
G21S (p.Gly21Ser) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Rubinstein-Taybi syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
G21S (p.Gly21Ser) variant details
- p.Gly21Ser
- rs2141616123
- ClinGen CA394567775
- ClinVar RCV003760888
- Ensembl rs2141616123
- Uncertain significance
- Rubinstein-Taybi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- AlphaMissense 0.10
- MetaLR 0.46
- MetaSVM -0.16
- PolyPhen-2 0.99
- SIFT 0.11
- MutPred 0.12
- ClinVar: Uncertain significance (Rubinstein-Taybi syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)