A15V (p.Ala15Val) variant of CREBBP (CREB-binding protein)
A15V (p.Ala15Val) in CREBBP (CREB-binding protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- TOPMed rs1439032753
- gnomAD rs1439032753
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.31
- CADD 25.70
- PolyPhen-2 0.64
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available