A91S (p.Ala91Ser) variant of CREBBP (CREB-binding protein)
A91S (p.Ala91Ser) 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; not provided; Rubinstein-Taybi syndrome due to CREBBP. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A91S (p.Ala91Ser) variant details
- p.Ala91Ser
- rs200673670
- ClinGen CA7870710
- ClinVar RCV000658735
- ClinVar RCV001198613
- Conflicting interpretations
- Rubinstein-Taybi syndrome; not provided; Rubinstein-Taybi syndrome due to CREBBP
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.20
- CADD 13.40
- PolyPhen-2 0.04
- SIFT 0.92
- ClinVar: Conflicting classifications of pathogenicity (Rubinstein-Taybi syndrome; not provided; Rubinstein-Taybi syndro)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0012)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)