E32A (p.Glu32Ala) variant of CXCR4 (C-X-C chemokine receptor type 4)
E32A (p.Glu32Ala) 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 0.20 / 1. The record also includes population frequency data and structural context.
E32A (p.Glu32Ala) variant details
- p.Glu32Ala
- TOPMed rs1684872314
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.04
- MetaLR 0.05
- MetaSVM -1.09
- CADD 19.20
- PolyPhen-2 0.03
- SIFT 0.89
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available