R148H (p.Arg148His) variant of REN (Renin)
R148H (p.Arg148His) in REN (Renin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Kidney disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
R148H (p.Arg148His) variant details
- p.Arg148His
- rs371704012
- ClinGen CA1344936
- cosmic curated COSV99689
- ClinVar RCV002294614
- Uncertain significance
- Kidney disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.10
- MetaLR 0.05
- MetaSVM -0.97
- CADD 4.58
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Uncertain significance (Kidney disorder; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00039)
- Structural context available