R8W (p.Arg8Trp) variant of ACE (Angiotensin-converting enzyme)
R8W (p.Arg8Trp) in ACE (Angiotensin-converting enzyme) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Renal tubular dysgenesis; not provided; Hemorrhage, intracerebral, susceptibilit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R8W (p.Arg8Trp) variant details
- p.Arg8Trp
- rs1333116255
- ClinGen CA400538245
- ClinVar RCV001124965
- ClinVar RCV002491388
- Uncertain significance
- Renal tubular dysgenesis; not provided; Hemorrhage, intracerebral, susceptibilit
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.33
- MetaLR 0.05
- MetaSVM -1.07
- CADD 14.00
- ClinVar: Uncertain significance (Renal tubular dysgenesis; not provided; Hemorrhage, intracerebra)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00015)
- Structural context available