R31P (p.Arg31Pro) variant of CCR5 (C-C chemokine receptor type 5)
R31P (p.Arg31Pro) in CCR5 (C-C chemokine receptor type 5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in INCCR5-72A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
R31P (p.Arg31Pro) variant details
- p.Arg31Pro
- 1000Genomes rs56340326
- ESP rs56340326
- ExAC rs56340326
- TOPMed rs56340326
- Uncertain significance
- in INCCR5-72A
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.19
- CADD 0.02
- PolyPhen-2 0.12
- SIFT 0.20
- EBI: Variant of uncertain significance (in INCCR5-72A)
- UniProt: Uncertain significance (in INCCR5-72A)
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available