G57V (p.Gly57Val) variant of CXCR4 (C-X-C chemokine receptor type 4)
G57V (p.Gly57Val) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G57V (p.Gly57Val) variant details
- p.Gly57Val
- gnomAD 2-136115758-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.18
- MetaLR 0.16
- MetaSVM -0.95
- CADD 25.10
- PolyPhen-2 0.80
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available