M1T (p.Met1Thr) variant of ACE (Angiotensin-converting enzyme)
M1T (p.Met1Thr) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1005792910
- ClinGen CA400538166
- ClinVar RCV001585206
- ClinVar RCV004546668
- Likely pathogenic
- Renal tubular dysgenesis of genetic origin; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- ESM-1b 0.71
- AlphaMissense 0.43
- MetaLR 0.07
- MetaSVM -1.00
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Likely pathogenic (Renal tubular dysgenesis of genetic origin; Hemorrhage, intracer)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available