N56S (p.Asn56Ser) variant of CXCR4 (C-X-C chemokine receptor type 4)
N56S (p.Asn56Ser) 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 0.84 / 1. The record also includes population frequency data and structural context.
N56S (p.Asn56Ser) variant details
- p.Asn56Ser
- TOPMed rs1393307051
- gnomAD rs1393307051
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.94
- MetaLR 0.96
- MetaSVM 1.10
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available