G6D (p.Gly6Asp) variant of ACE (Angiotensin-converting enzyme)
G6D (p.Gly6Asp) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G6D (p.Gly6Asp) variant details
- p.Gly6Asp
- gnomAD 17-63477111-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.06
- ESM-1b 1.00
- AlphaMissense 0.21
- MetaLR 0.06
- MetaSVM -1.07
- CADD 12.50
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available