H67R (p.His67Arg) variant of CREBBP (CREB-binding protein)
H67R (p.His67Arg) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of CREBBP-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
H67R (p.His67Arg) variant details
- p.His67Arg
- TOPMed rs61759496
- Uncertain significance
- CREBBP-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.54
- CADD 25.60
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (CREBBP-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available