L50R (p.Leu50Arg) variant of CCR5 (C-C chemokine receptor type 5)
L50R (p.Leu50Arg) in CCR5 (C-C chemokine receptor type 5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
L50R (p.Leu50Arg) variant details
- p.Leu50Arg
- rs747388089
- gnomAD 3-46373050-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.715
- CADD 25.30
- Population evidence available
- Structural context available
- Literature evidence available