N35D (p.Asn35Asp) variant of CXCR4 (C-X-C chemokine receptor type 4)
N35D (p.Asn35Asp) in CXCR4 (C-X-C chemokine receptor type 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
N35D (p.Asn35Asp) variant details
- p.Asn35Asp
- rs779590491
- ClinGen CA1890159
- ClinVar RCV003872562
- ExAC rs779590491
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -0.99
- CADD 10.70
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available