K1520R (p.Lys1520Arg) variant of CREBBP (CREB-binding protein)
K1520R (p.Lys1520Arg) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Rubinstein-Taybi syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
K1520R (p.Lys1520Arg) variant details
- p.Lys1520Arg
- rs1596805575
- ClinGen CA394563244
- ClinVar RCV000799589
- Ensembl rs1596805575
- Pathogenic
- Rubinstein-Taybi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- AlphaMissense 0.99
- MetaLR 0.89
- MetaSVM 1.00
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic (Rubinstein-Taybi syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)