L608P (p.Leu608Pro) variant of CREBBP (CREB-binding protein)
L608P (p.Leu608Pro) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Rubinstein-Taybi syndrome due to CREBBP mutations; CREBBP-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
L608P (p.Leu608Pro) variant details
- p.Leu608Pro
- rs2053254528
- ClinGen CA394556274
- ClinVar RCV001249727
- Ensembl rs2053254528
- Likely pathogenic
- Rubinstein-Taybi syndrome due to CREBBP mutations; CREBBP-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- AlphaMissense 1.00
- MetaLR 0.88
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.79
- ClinVar: Likely pathogenic (Rubinstein-Taybi syndrome due to CREBBP mutations; CREBBP-relate)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)