E2A (p.Glu2Ala) variant of CXCR4 (C-X-C chemokine receptor type 4)
E2A (p.Glu2Ala) 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
E2A (p.Glu2Ala) variant details
- p.Glu2Ala
- gnomAD 2-136118056-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.03
- MetaLR 0.09
- MetaSVM -1.01
- CADD 18.90
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available