M1I (p.Met1Ile) variant of ACE (Angiotensin-converting enzyme)
M1I (p.Met1Ile) in ACE (Angiotensin-converting enzyme) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Renal tubular dysgenesis of genetic origin. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2510680823
- ClinGen CA400538174
- ClinVar RCV003338228
- Likely pathogenic
- Renal tubular dysgenesis of genetic origin
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- ESM-1b 1.00
- AlphaMissense 0.59
- ClinVar: Likely pathogenic (Renal tubular dysgenesis of genetic origin)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available