L53P (p.Leu53Pro) variant of CREBBP (CREB-binding protein)
L53P (p.Leu53Pro) in CREBBP (CREB-binding protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
L53P (p.Leu53Pro) variant details
- p.Leu53Pro
- NCI-TCGA Cosmic COSV5211
- NCI-TCGA Cosmic COSV9927
- cosmic curated COSV99270
- Ensembl rs2141496634
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.58
- CADD 27.30
- PolyPhen-2 0.90
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available