G21D (p.Gly21Asp) variant of CREBBP (CREB-binding protein)
G21D (p.Gly21Asp) 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 Rubinstein-Taybi syndrome due to CREBBP mutations; Rubinstein-Taybi syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
G21D (p.Gly21Asp) variant details
- p.Gly21Asp
- rs1211983012
- ClinGen CA394567769
- cosmic curated COSV52118
- ClinVar RCV001198521
- Conflicting interpretations
- Rubinstein-Taybi syndrome due to CREBBP mutations; Rubinstein-Taybi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.50
- CADD 25.70
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Rubinstein-Taybi syndrome due to CREBBP mutations; Rubinstein-Ta)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)