R30C (p.Arg30Cys) variant of CXCR4 (C-X-C chemokine receptor type 4)
R30C (p.Arg30Cys) 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 and structural context.
R30C (p.Arg30Cys) variant details
- p.Arg30Cys
- cosmic curated COSV54010
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.17
- MetaLR 0.12
- MetaSVM -0.95
- CADD 19.60
- PolyPhen-2 0.85
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)
- Structural context available