L6V (p.Leu6Val) variant of CREBBP (CREB-binding protein)
L6V (p.Leu6Val) in CREBBP (CREB-binding protein) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
L6V (p.Leu6Val) variant details
- p.Leu6Val
- TOPMed rs1023187476
- gnomAD rs1023187476
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.34
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.25
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available