L59F (p.Leu59Phe) variant of CREBBP (CREB-binding protein)
L59F (p.Leu59Phe) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Rubinstein-Taybi syndrome; Rubinstein-Taybi syndrome due to CREBBP mutations; Me. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L59F (p.Leu59Phe) variant details
- p.Leu59Phe
- rs747862621
- ClinGen CA7870728
- cosmic curated COSV52117
- ClinVar RCV003086185
- Conflicting interpretations
- Rubinstein-Taybi syndrome; Rubinstein-Taybi syndrome due to CREBBP mutations; Me
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.49
- CADD 23.40
- ClinVar: Conflicting classifications of pathogenicity (Rubinstein-Taybi syndrome; Rubinstein-Taybi syndrome due to CREB)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)