L33F (p.Leu33Phe) variant of CREBBP (CREB-binding protein)
L33F (p.Leu33Phe) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
L33F (p.Leu33Phe) variant details
- p.Leu33Phe
- cosmic curated COSV52113
- Ensembl rs2141496819
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.31
- CADD 17.80
- PolyPhen-2 0.24
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available