D35E (p.Asp35Glu) variant of CREBBP (CREB-binding protein)
D35E (p.Asp35Glu) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Rubinstein-Taybi syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
D35E (p.Asp35Glu) variant details
- p.Asp35Glu
- rs372495787
- ClinGen CA276987731
- ClinVar RCV001760769
- ClinVar RCV002252698
- Conflicting interpretations
- Inborn genetic diseases; Rubinstein-Taybi syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.42
- CADD 24.10
- PolyPhen-2 0.98
- SIFT 0.17
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Rubinstein-Taybi syndrome; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)