S81T (p.Ser81Thr) variant of CREBBP (CREB-binding protein)
S81T (p.Ser81Thr) in CREBBP (CREB-binding protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S81T (p.Ser81Thr) variant details
- p.Ser81Thr
- TOPMed rs372793936
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.10
- AlphaMissense 0.12
- MetaLR 0.26
- MetaSVM -0.91
- CADD 14.20
- PolyPhen-2 0.16
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available