Q25R (p.Gln25Arg) variant of ACE (Angiotensin-converting enzyme)
Q25R (p.Gln25Arg) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
Q25R (p.Gln25Arg) variant details
- p.Gln25Arg
- gnomAD 17-63477168-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0841
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.03
- MetaSVM -1.04
- CADD 3.31
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available