I48V (p.Ile48Val) variant of CXCR4 (C-X-C chemokine receptor type 4)
I48V (p.Ile48Val) 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 0.31 / 1. The record also includes population frequency data and structural context.
I48V (p.Ile48Val) variant details
- p.Ile48Val
- TOPMed rs1359102217
- gnomAD rs1359102217
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.13
- MetaLR 0.08
- MetaSVM -1.03
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.57
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available