L54L (p.Leu54Leu) variant of ID3 (Q02535)
L54L (p.Leu54Leu) in ID3 (Q02535) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L54L (p.Leu54Leu) variant details
- p.Leu54Leu
- rs1429005359
- gnomAD 1-23559265-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.342
- CADD 13.00
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available