E72D (p.Glu72Asp) variant of CREBBP (CREB-binding protein)
E72D (p.Glu72Asp) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Inborn genetic diseases; Rubinstein-Taybi syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E72D (p.Glu72Asp) variant details
- p.Glu72Asp
- rs534853661
- ClinGen CA7870724
- ClinVar RCV002788909
- ClinVar RCV004741545
- Benign/Likely benign
- Inborn genetic diseases; Rubinstein-Taybi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.34
- CADD 22.30
- PolyPhen-2 0.08
- SIFT 0.03
- ClinVar: Benign/Likely benign (Inborn genetic diseases; Rubinstein-Taybi syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:KALASH population (allele frequency 0.14)
- 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)