S81I (p.Ser81Ile) variant of CREBBP (CREB-binding protein)
S81I (p.Ser81Ile) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S81I (p.Ser81Ile) variant details
- p.Ser81Ile
- rs372793936
- ClinGen CA394561934
- ClinVar RCV003231975
- ClinVar RCV005102463
- Uncertain significance
- Rubinstein-Taybi syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.27
- AlphaMissense 0.12
- MetaLR 0.26
- MetaSVM -0.91
- CADD 16.90
- PolyPhen-2 0.16
- ClinVar: Uncertain significance (Rubinstein-Taybi syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)