R7C (p.Arg7Cys) variant of ACE (Angiotensin-converting enzyme)
R7C (p.Arg7Cys) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R7C (p.Arg7Cys) variant details
- p.Arg7Cys
- gnomAD 17-63477113-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.35
- MetaLR 0.05
- MetaSVM -1.00
- CADD 15.40
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available