A27T (p.Ala27Thr) variant of ACE (Angiotensin-converting enzyme)
A27T (p.Ala27Thr) 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 and structural context.
A27T (p.Ala27Thr) variant details
- p.Ala27Thr
- TOPMed rs2049629805
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.04
- MetaSVM -1.05
- CADD 10.10
- Most common in the HGDP:SAN population (allele frequency 0.25)
- Structural context available