G98V (p.Gly98Val) variant of CREBBP (CREB-binding protein)
G98V (p.Gly98Val) 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 Rubinstein-Taybi syndrome; Inborn genetic diseases; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
G98V (p.Gly98Val) variant details
- p.Gly98Val
- rs141982003
- ClinGen CA158184
- ClinVar RCV000120600
- ClinVar RCV000877781
- Benign/Likely benign
- Rubinstein-Taybi syndrome; Inborn genetic diseases; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.64
- CADD 24.60
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Benign/Likely benign (Rubinstein-Taybi syndrome; Inborn genetic diseases; not specifie)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- 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)