L47L (p.Leu47Leu) variant of SETD1B (Q9UPS6)
L47L (p.Leu47Leu) 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.
L47L (p.Leu47Leu) variant details
- p.Leu47Leu
- gnomAD 12-121804876-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.48
- CADD 13.10
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available