G6C (p.Gly6Cys) variant of ACE (Angiotensin-converting enzyme)
G6C (p.Gly6Cys) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
G6C (p.Gly6Cys) variant details
- p.Gly6Cys
- gnomAD 17-63477110-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.25
- MetaLR 0.10
- MetaSVM -1.07
- CADD 22.40
- Population evidence available
- Structural context available
- Literature evidence available