S5P (p.Ser5Pro) variant of CXCR4 (C-X-C chemokine receptor type 4)
S5P (p.Ser5Pro) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S5P (p.Ser5Pro) variant details
- p.Ser5Pro
- rs776615103
- gnomAD 2-136115936-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- CADD 8.72
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available