L1142P (p.Leu1142Pro) variant of CREBBP (CREB-binding protein)
L1142P (p.Leu1142Pro) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Rubinstein-Taybi syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
L1142P (p.Leu1142Pro) variant details
- p.Leu1142Pro
- rs2151383792
- ClinGen CA394568972
- ClinVar RCV001930793
- Ensembl rs2151383792
- Pathogenic
- Rubinstein-Taybi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- MutPred 0.92
- ClinVar: Pathogenic (Rubinstein-Taybi syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)