L39P (p.Leu39Pro) variant of CCR5 (C-C chemokine receptor type 5)
L39P (p.Leu39Pro) in CCR5 (C-C chemokine receptor type 5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
L39P (p.Leu39Pro) variant details
- p.Leu39Pro
- ExAC rs779570167
- TOPMed rs779570167
- gnomAD rs779570167
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.51
- CADD 25.00
- PolyPhen-2 0.82
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available