S27C (p.Ser27Cys) variant of CREBBP (CREB-binding protein)
S27C (p.Ser27Cys) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes structural context.
S27C (p.Ser27Cys) variant details
- p.Ser27Cys
- rs878985635
- ClinGen CA394567692
- ClinVar RCV003332812
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- AlphaMissense 0.06
- MetaLR 0.23
- MetaSVM -0.85
- PolyPhen-2 0.01
- SIFT 1.00
- MutPred 0.08
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available