G79S (p.Gly79Ser) variant of CREBBP (CREB-binding protein)
G79S (p.Gly79Ser) 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; Menke-Hennekam syndrome 1; Rubinstein-Taybi syndrome du. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
G79S (p.Gly79Ser) variant details
- p.Gly79Ser
- rs752992134
- ClinGen CA7870719
- NCI-TCGA Cosmic COSV5213
- cosmic curated COSV52133
- Conflicting interpretations
- Inborn genetic diseases; Menke-Hennekam syndrome 1; Rubinstein-Taybi syndrome du
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.14
- CADD 4.15
- PolyPhen-2 0.07
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Menke-Hennekam syndrome 1; Rubinstein-T)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.4e-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)