A15G (p.Ala15Gly) variant of CREBBP (CREB-binding protein)
A15G (p.Ala15Gly) 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 Inborn genetic diseases; Rubinstein-Taybi syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A15G (p.Ala15Gly) variant details
- p.Ala15Gly
- rs1439032753
- ClinGen CA394567844
- ClinVar RCV002328677
- ClinVar RCV003775907
- Uncertain significance
- Inborn genetic diseases; Rubinstein-Taybi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.29
- CADD 25.30
- PolyPhen-2 0.54
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Rubinstein-Taybi syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)