I4T (p.Ile4Thr) variant of CXCR4 (C-X-C chemokine receptor type 4)
I4T (p.Ile4Thr) in CXCR4 (C-X-C chemokine receptor type 4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
I4T (p.Ile4Thr) variant details
- p.Ile4Thr
- cosmic curated COSV10806
- NCI-TCGA Cosmic COSV9960
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.06
- MetaLR 0.10
- MetaSVM -1.05
- CADD 20.00
- PolyPhen-2 0.01
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available