S18L (p.Ser18Leu) variant of CXCR4 (C-X-C chemokine receptor type 4)
S18L (p.Ser18Leu) 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 0.38 / 1. The record also includes population frequency data and structural context.
S18L (p.Ser18Leu) variant details
- p.Ser18Leu
- gnomAD rs1363377230
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.18
- MetaLR 0.12
- MetaSVM -0.99
- CADD 22.40
- PolyPhen-2 0.06
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available