N37D (p.Asn37Asp) variant of CXCR4 (C-X-C chemokine receptor type 4)
N37D (p.Asn37Asp) 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 0.28 / 1. The record also includes population frequency data and structural context.
N37D (p.Asn37Asp) variant details
- p.Asn37Asp
- rs757881953
- ClinGen CA1890158
- ClinVar RCV003870177
- ExAC rs757881953
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.07
- MetaLR 0.08
- MetaSVM -1.09
- CADD 24.00
- PolyPhen-2 0.15
- SIFT 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available