L40L (p.Leu40Leu) variant of SETD1B (Q9UPS6)
L40L (p.Leu40Leu) in SETD1B (Q9UPS6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L40L (p.Leu40Leu) variant details
- p.Leu40Leu
- rs1875645162
- gnomAD 12-121804855-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.351
- CADD 13.00
- Population evidence available
- Structural context available
- Literature evidence available