G2E (p.Gly2Glu) variant of ACE (Angiotensin-converting enzyme)
G2E (p.Gly2Glu) 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 not provided; Microvascular complications of diabetes, susceptibility to, 3; Ren. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G2E (p.Gly2Glu) variant details
- p.Gly2Glu
- rs558593002
- ClinGen CA400538180
- ClinVar RCV003086890
- ClinVar RCV005028236
- Uncertain significance
- not provided; Microvascular complications of diabetes, susceptibility to, 3; Ren
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.27
- MetaLR 0.04
- MetaSVM -1.07
- CADD 22.60
- ClinVar: Uncertain significance (not provided; Microvascular complications of diabetes, susceptib)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:DRUZE population (allele frequency 0.015)
- Structural context available