I53L (p.Ile53Leu) variant of CXCR4 (C-X-C chemokine receptor type 4)
I53L (p.Ile53Leu) in CXCR4 (C-X-C chemokine receptor type 4) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
I53L (p.Ile53Leu) variant details
- p.Ile53Leu
- rs56400844
- ClinGen CA1890152
- ClinVar RCV000880790
- ClinVar RCV001357354
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.06
- MetaLR 0.05
- MetaSVM -1.07
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.38
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0084)
- Structural context available