A24T (p.Ala24Thr) variant of CREBBP (CREB-binding protein)
A24T (p.Ala24Thr) 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 0.42 / 1. The record also includes published literature and structural context.
A24T (p.Ala24Thr) variant details
- p.Ala24Thr
- rs762331442
- ClinGen CA394567734
- ClinVar RCV003594826
- Uncertain significance
- Rubinstein-Taybi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- AlphaMissense 0.08
- MetaLR 0.35
- MetaSVM -0.49
- PolyPhen-2 0.64
- SIFT 0.10
- MutPred 0.10
- ClinVar: Uncertain significance (Rubinstein-Taybi syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)