S5G (p.Ser5Gly) variant of CXCR4 (C-X-C chemokine receptor type 4)
S5G (p.Ser5Gly) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S5G (p.Ser5Gly) variant details
- p.Ser5Gly
- rs1186182929
- gnomAD 2-136115936-A-ACA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.286
- CADD 16.40
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available