N11K (p.Asn11Lys) variant of CREBBP (CREB-binding protein)
N11K (p.Asn11Lys) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar 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 0.38 / 1. The record also includes population frequency data and structural context.
N11K (p.Asn11Lys) variant details
- p.Asn11Lys
- ExAC rs760605276
- gnomAD rs760605276
- Uncertain significance
- CREBBP-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.34
- CADD 23.30
- PolyPhen-2 0.43
- SIFT 0.01
- ClinVar: Uncertain significance (CREBBP-related disorder)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available