N58Y (p.Asn58Tyr) variant of CREBBP (CREB-binding protein)
N58Y (p.Asn58Tyr) 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 Rubinstein-Taybi syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
N58Y (p.Asn58Tyr) variant details
- p.Asn58Tyr
- rs2548546613
- ClinGen CA394562451
- ClinVar RCV003758511
- Uncertain significance
- Rubinstein-Taybi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.48
- CADD 25.80
- PolyPhen-2 0.85
- SIFT 0.01
- ClinVar: Uncertain significance (Rubinstein-Taybi syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)