P107L (p.Pro107Leu) variant of CREBBP (CREB-binding protein)
P107L (p.Pro107Leu) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
P107L (p.Pro107Leu) variant details
- p.Pro107Leu
- rs766844540
- ClinGen CA7870699
- cosmic curated COSV52135
- ClinVar RCV001065768
- Likely benign
- Rubinstein-Taybi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.51
- CADD 24.60
- PolyPhen-2 0.58
- SIFT 0.01
- ClinVar: Likely benign (Rubinstein-Taybi syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)