L69Q (p.Leu69Gln) variant of CXCR4 (C-X-C chemokine receptor type 4)
L69Q (p.Leu69Gln) 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.
L69Q (p.Leu69Gln) variant details
- p.Leu69Gln
- ExAC rs762377247
- gnomAD rs762377247
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.07
- MetaLR 0.08
- MetaSVM -1.03
- CADD 19.60
- PolyPhen-2 0.02
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available