H67D (p.His67Asp) variant of CREBBP (CREB-binding protein)
H67D (p.His67Asp) 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 due to CREBBP mutations; Menk. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
H67D (p.His67Asp) variant details
- p.His67Asp
- rs751125621
- ClinGen CA7870725
- ClinVar RCV002221729
- ClinVar RCV004744331
- Uncertain significance
- Inborn genetic diseases; Rubinstein-Taybi syndrome due to CREBBP mutations; Menk
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.59
- CADD 26.10
- PolyPhen-2 0.81
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Rubinstein-Taybi syndrome due to CREBBP)
- 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: Rubinstein-Taybi Syndrome. (PMID 20301699)