L53F (p.Leu53Phe) variant of CREBBP (CREB-binding protein)
L53F (p.Leu53Phe) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
L53F (p.Leu53Phe) variant details
- p.Leu53Phe
- cosmic curated COSV10509
- gnomAD rs1220521982
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.47
- CADD 24.40
- PolyPhen-2 0.85
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available