P17Q (p.Pro17Gln) variant of ACE (Angiotensin-converting enzyme)
P17Q (p.Pro17Gln) in ACE (Angiotensin-converting enzyme) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
P17Q (p.Pro17Gln) variant details
- p.Pro17Gln
- TOPMed rs1441805434
- gnomAD rs1441805434
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.04
- MetaSVM -1.08
- CADD 1.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available