M63T (p.Met63Thr) variant of CXCR4 (C-X-C chemokine receptor type 4)
M63T (p.Met63Thr) in CXCR4 (C-X-C chemokine receptor type 4) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
M63T (p.Met63Thr) variant details
- p.Met63Thr
- rs773216142
- ClinGen CA1890148
- ClinVar RCV003876367
- ClinVar RCV005555078
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.42
- MetaLR 0.11
- MetaSVM -0.98
- CADD 26.60
- PolyPhen-2 0.49
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)