R8G (p.Arg8Gly) variant of ACE (Angiotensin-converting enzyme)
R8G (p.Arg8Gly) in ACE (Angiotensin-converting enzyme) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R8G (p.Arg8Gly) variant details
- p.Arg8Gly
- rs2049627400
- gnomAD 17-63477108-CGGGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.319
- CADD 21.50
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Literature evidence available