C1421F (p.Cys1421Phe) variant of CREBBP (CREB-binding protein)
C1421F (p.Cys1421Phe) 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 due to CREBBP mutations. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
C1421F (p.Cys1421Phe) variant details
- p.Cys1421Phe
- rs200616542
- ClinGen CA394564713
- NCI-TCGA Cosmic COSV5213
- NCI-TCGA Cosmic COSV9926
- Likely pathogenic
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- AlphaMissense 0.53
- MetaLR 0.87
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.06
- EVE 0.63
- ClinVar: Likely pathogenic (Rubinstein-Taybi syndrome due to CREBBP mutations)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)