Q85H (p.Gln85His) variant of REN (Renin)
Q85H (p.Gln85His) in REN (Renin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Renal tubular dysgenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
Q85H (p.Gln85His) variant details
- p.Gln85His
- rs1301244321
- ClinGen CA344341422
- ClinVar RCV001196049
- TOPMed rs1301244321
- Uncertain significance
- Renal tubular dysgenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.56
- MetaLR 0.52
- MetaSVM 0.29
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Renal tubular dysgenesis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available