I4L (p.Ile4Leu) variant of CXCR4 (C-X-C chemokine receptor type 4)
I4L (p.Ile4Leu) 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 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
I4L (p.Ile4Leu) variant details
- p.Ile4Leu
- gnomAD 2-136118051-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.09
- MetaLR 0.07
- MetaSVM -1.01
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.48
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available