A63V (p.Ala63Val) variant of CREBBP (CREB-binding protein)
A63V (p.Ala63Val) 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 0.64 / 1. The record also includes population frequency data and structural context.
A63V (p.Ala63Val) variant details
- p.Ala63Val
- TOPMed rs1186676649
- gnomAD rs1186676649
- Uncertain significance
- CREBBP-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.54
- CADD 27.60
- ClinVar: Uncertain significance (CREBBP-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available