A29V (p.Ala29Val) variant of ACE (Angiotensin-converting enzyme)
A29V (p.Ala29Val) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A29V (p.Ala29Val) variant details
- p.Ala29Val
- gnomAD 17-63477180-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.25
- MetaLR 0.04
- MetaSVM -1.06
- CADD 12.90
- Population evidence available
- Structural context available
- Literature evidence available