G98S (p.Gly98Ser) variant of CREBBP (CREB-binding protein)
G98S (p.Gly98Ser) 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; Inborn genetic diseases. 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.
G98S (p.Gly98Ser) variant details
- p.Gly98Ser
- rs767736927
- ClinGen CA7870701
- ClinVar RCV003954847
- ClinVar RCV004981153
- Uncertain significance
- Rubinstein-Taybi syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.43
- CADD 23.80
- PolyPhen-2 0.94
- SIFT 0.07
- ClinVar: Uncertain significance (Rubinstein-Taybi syndrome; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)