Q1853P (p.Gln1853Pro) variant of CREBBP (CREB-binding protein)
Q1853P (p.Gln1853Pro) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Menke-Hennekam syndrome 1; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
Q1853P (p.Gln1853Pro) variant details
- p.Gln1853Pro
- rs933672395
- ClinGen CA394556023
- ClinVar RCV002280359
- ClinVar RCV003164411
- Pathogenic/Likely pathogenic
- Menke-Hennekam syndrome 1; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- AlphaMissense 0.90
- MetaLR 0.75
- MetaSVM 0.59
- PolyPhen-2 0.99
- SIFT 0.04
- EVE 0.77
- ClinVar: Pathogenic/Likely pathogenic (Menke-Hennekam syndrome 1; Inborn genetic diseases)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)