A27S (p.Ala27Ser) variant of ACE (Angiotensin-converting enzyme)
A27S (p.Ala27Ser) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A27S (p.Ala27Ser) variant details
- p.Ala27Ser
- gnomAD 17-63477173-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.03
- MetaSVM -1.03
- CADD 7.84
- Population evidence available
- Structural context available
- Literature evidence available