M1R (p.Met1Arg) variant of ACE (Angiotensin-converting enzyme)
M1R (p.Met1Arg) 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 of genetic origin. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs1005792910
- ClinGen CA400538168
- ClinVar RCV003388791
- Uncertain significance
- Renal tubular dysgenesis of genetic origin
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- ESM-1b 0.54
- AlphaMissense 0.30
- MetaLR 0.07
- MetaSVM -1.00
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Uncertain significance (Renal tubular dysgenesis of genetic origin)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available