N25K (p.Asn25Lys) variant of CREBBP (CREB-binding protein)
N25K (p.Asn25Lys) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
N25K (p.Asn25Lys) variant details
- p.Asn25Lys
- gnomAD rs2055489264
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.24
- CADD 23.50
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available