P84T (p.Pro84Thr) variant of CREBBP (CREB-binding protein)
P84T (p.Pro84Thr) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Rubinstein-Taybi syndrome; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
P84T (p.Pro84Thr) variant details
- p.Pro84Thr
- rs770952413
- ClinGen CA7870716
- ClinVar RCV001620834
- ClinVar RCV002539566
- Benign/Likely benign
- Rubinstein-Taybi syndrome; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.24
- CADD 19.50
- PolyPhen-2 0.03
- SIFT 0.43
- ClinVar: Benign/Likely benign (Rubinstein-Taybi syndrome; Inborn genetic diseases; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 0.00042)
- 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)