N38S (p.Asn38Ser) variant of CREBBP (CREB-binding protein)
N38S (p.Asn38Ser) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
N38S (p.Asn38Ser) variant details
- p.Asn38Ser
- TOPMed rs1260576843
- gnomAD rs1260576843
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.40
- CADD 24.30
- PolyPhen-2 0.87
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available