E14V (p.Glu14Val) variant of CXCR4 (C-X-C chemokine receptor type 4)
E14V (p.Glu14Val) 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 0.23 / 1. The record also includes population frequency data and structural context.
E14V (p.Glu14Val) variant details
- p.Glu14Val
- gnomAD rs1360656571
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.10
- MetaLR 0.13
- MetaSVM -0.92
- CADD 23.40
- PolyPhen-2 0.08
- SIFT 0.15
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available