F40V (p.Phe40Val) variant of CXCR4 (C-X-C chemokine receptor type 4)
F40V (p.Phe40Val) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
F40V (p.Phe40Val) variant details
- p.Phe40Val
- gnomAD 2-136115810-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.66
- MetaLR 0.18
- MetaSVM -0.81
- CADD 25.50
- PolyPhen-2 0.97
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available