N83T (p.Asn83Thr) variant of CREBBP (CREB-binding protein)
N83T (p.Asn83Thr) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
N83T (p.Asn83Thr) variant details
- p.Asn83Thr
- rs1241593773
- ClinGen CA394561897
- cosmic curated COSV52145
- ClinVar RCV003760644
- Uncertain significance
- Rubinstein-Taybi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.12
- CADD 16.90
- PolyPhen-2 0.03
- SIFT 0.35
- ClinVar: Uncertain significance (Rubinstein-Taybi syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)