S23P (p.Ser23Pro) variant of CXCR4 (C-X-C chemokine receptor type 4)
S23P (p.Ser23Pro) 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 0.22 / 1. The record also includes population frequency data and structural context.
S23P (p.Ser23Pro) variant details
- p.Ser23Pro
- ExAC rs748493255
- gnomAD rs748493255
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.12
- MetaLR 0.12
- MetaSVM -1.03
- CADD 21.20
- PolyPhen-2 0.43
- SIFT 0.31
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available