L40F (p.Leu40Phe) variant of CREBBP (CREB-binding protein)
L40F (p.Leu40Phe) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
L40F (p.Leu40Phe) variant details
- p.Leu40Phe
- ExAC rs774359612
- gnomAD rs774359612
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.75
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available