G1099D (p.Gly1099Asp) variant of ACE (Angiotensin-converting enzyme)
G1099D (p.Gly1099Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
G1099D (p.Gly1099Asp) variant details
- p.Gly1099Asp
- rs775421383
- ClinGen CA400563045
- cosmic curated COSV52008
- ClinVar RCV001175177
- Likely pathogenic
- Renal tubular dysgenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.52
- MetaSVM 0.43
- CADD 31.00
- ClinVar: Likely pathogenic (Renal tubular dysgenesis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available