L39R (p.Leu39Arg) variant of CCR5 (C-C chemokine receptor type 5)
L39R (p.Leu39Arg) in CCR5 (C-C chemokine receptor type 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
L39R (p.Leu39Arg) variant details
- p.Leu39Arg
- rs779570167
- ClinGen CA352469252
- ClinVar RCV004189470
- ExAC rs779570167
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.51
- CADD 24.70
- PolyPhen-2 0.69
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available