R8Q (p.Arg8Gln) variant of ACE (Angiotensin-converting enzyme)
R8Q (p.Arg8Gln) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
R8Q (p.Arg8Gln) variant details
- p.Arg8Gln
- gnomAD 17-63477117-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0906
- REVEL 0.02
- ESM-1b 0.06
- AlphaMissense 0.20
- MetaLR 0.05
- MetaSVM -1.06
- CADD 3.42
- Population evidence available
- Structural context available
- Literature evidence available