R30P (p.Arg30Pro) variant of CXCR4 (C-X-C chemokine receptor type 4)
R30P (p.Arg30Pro) 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, published literature, and structural context.
R30P (p.Arg30Pro) variant details
- p.Arg30Pro
- gnomAD 2-136115839-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.12
- MetaLR 0.05
- MetaSVM -1.05
- CADD 18.80
- PolyPhen-2 0.02
- SIFT 0.38
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available