R31H (p.Arg31His) variant of CCR5 (C-C chemokine receptor type 5)
R31H (p.Arg31His) 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 0.06 / 1. The record also includes population frequency data and structural context.
R31H (p.Arg31His) variant details
- p.Arg31His
- rs56340326
- ClinGen CA2354561
- cosmic curated COSV10962
- ClinVar RCV004183980
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0587
- REVEL 0.05
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Uncertain significance (not specified)
- EBI: Benign (in INCCR5-72A)
- UniProt: Benign (in INCCR5-72A)
- Most common in the HGDP:BASQUE population (allele frequency 0.045)
- Structural context available