P94L (p.Pro94Leu) variant of CREBBP (CREB-binding protein)
P94L (p.Pro94Leu) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
P94L (p.Pro94Leu) variant details
- p.Pro94Leu
- gnomAD rs979410323
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.53
- CADD 25.50
- PolyPhen-2 0.64
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available