P20L (p.Pro20Leu) variant of CREBBP (CREB-binding protein)
P20L (p.Pro20Leu) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Rubinstein-Taybi syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
P20L (p.Pro20Leu) variant details
- p.Pro20Leu
- rs759137934
- ClinGen CA7870763
- ClinVar RCV002894809
- ExAC rs759137934
- Likely benign
- Rubinstein-Taybi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.66
- CADD 28.10
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely benign (Rubinstein-Taybi syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)