S23F (p.Ser23Phe) variant of CXCR4 (C-X-C chemokine receptor type 4)
S23F (p.Ser23Phe) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S23F (p.Ser23Phe) variant details
- p.Ser23Phe
- gnomAD 2-136115860-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.02
- MetaLR 0.09
- MetaSVM -1.08
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.30
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available