P61T (p.Pro61Thr) variant of CREBBP (CREB-binding protein)
P61T (p.Pro61Thr) in CREBBP (CREB-binding protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Rubinstein-Taybi syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
P61T (p.Pro61Thr) variant details
- p.Pro61Thr
- rs929503319
- ClinGen CA276987666
- ClinVar RCV002590175
- ClinVar RCV004744386
- Benign
- Rubinstein-Taybi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.51
- CADD 25.00
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Benign (Rubinstein-Taybi syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00022)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)