L50V (p.Leu50Val) variant of CXCR4 (C-X-C chemokine receptor type 4)
L50V (p.Leu50Val) 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 0.12 / 1. The record also includes population frequency data and structural context.
L50V (p.Leu50Val) variant details
- p.Leu50Val
- ExAC rs753680989
- gnomAD rs753680989
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.03
- MetaLR 0.05
- MetaSVM -1.07
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available