I86M (p.Ile86Met) variant of CREBBP (CREB-binding protein)
I86M (p.Ile86Met) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Rubinstein-Taybi syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
I86M (p.Ile86Met) variant details
- p.Ile86Met
- rs2054819160
- ClinGen CA394561831
- ClinVar RCV001255816
- ClinVar RCV003770328
- Uncertain significance
- Rubinstein-Taybi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.21
- CADD 15.80
- PolyPhen-2 0.04
- SIFT 0.12
- ClinVar: Uncertain significance (Rubinstein-Taybi syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)