S1687P (p.Ser1687Pro) variant of CREBBP (CREB-binding protein)
S1687P (p.Ser1687Pro) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Rubinstein-Taybi syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
S1687P (p.Ser1687Pro) variant details
- p.Ser1687Pro
- rs61731407
- ClinGen CA394558453
- cosmic curated COSV52147
- ClinVar RCV001066810
- Likely pathogenic
- Rubinstein-Taybi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- AlphaMissense 1.00
- MetaLR 0.81
- MetaSVM 0.64
- PolyPhen-2 0.31
- SIFT 0.00
- EVE 0.76
- ClinVar: Likely pathogenic (Rubinstein-Taybi syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)