P42L (p.Pro42Leu) variant of CXCR4 (C-X-C chemokine receptor type 4)
P42L (p.Pro42Leu) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
P42L (p.Pro42Leu) variant details
- p.Pro42Leu
- gnomAD 2-136115803-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.68
- MetaLR 0.24
- MetaSVM -0.67
- CADD 29.90
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available