P9L (p.Pro9Leu) variant of CREBBP (CREB-binding protein)
P9L (p.Pro9Leu) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Rubinstein-Taybi syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
P9L (p.Pro9Leu) variant details
- p.Pro9Leu
- ESP rs137867843
- gnomAD rs137867843
- Uncertain significance
- Rubinstein-Taybi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.60
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Rubinstein-Taybi syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available