L41* (p.Leu41Ter) variant of CXCR4 (C-X-C chemokine receptor type 4)
L41* (p.Leu41Ter) in CXCR4 (C-X-C chemokine receptor type 4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L41* (p.Leu41Ter) variant details
- p.Leu41Ter
- rs1053292586
- gnomAD 2-136115926-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.518
- CADD 36.00
- Most common in the Amish population (allele frequency 0.012)
- Structural context available
- Literature evidence available