S27N (p.Ser27Asn) variant of CREBBP (CREB-binding protein)
S27N (p.Ser27Asn) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Rubinstein-Taybi syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S27N (p.Ser27Asn) variant details
- p.Ser27Asn
- ExAC rs769297821
- gnomAD rs769297821
- Likely benign
- Rubinstein-Taybi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.20
- CADD 21.80
- PolyPhen-2 0.02
- SIFT 0.06
- ClinVar: Likely benign (Rubinstein-Taybi syndrome)
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available