V1371D (p.Val1371Asp) variant of CREBBP (CREB-binding protein)
V1371D (p.Val1371Asp) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as no classification for the single variant 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.
V1371D (p.Val1371Asp) variant details
- p.Val1371Asp
- rs1567272940
- cosmic curated COSV52122
- ClinVar RCV000754902
- Ensembl rs1567272940
- no classification for the single variant
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- MutPred 0.79
- ClinVar: no classification for the single variant
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)