p.Ser2 Leu5del variant of CXCR4 (C-X-C chemokine receptor type 4)
p.Ser2 Leu5del in CXCR4 (C-X-C chemokine receptor type 4) is a missense 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.
p.Ser2 Leu5del variant details
- rs1184795351
- gnomAD 2-136115924-GCAAA
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.52
- CADD 17.90
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available