L57L (p.Leu57Leu) variant of SETD1B (Q9UPS6)
L57L (p.Leu57Leu) in SETD1B (Q9UPS6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L57L (p.Leu57Leu) variant details
- p.Leu57Leu
- gnomAD 12-121804908-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.48
- CADD 13.10
- Population evidence available
- Structural context available
- Literature evidence available