A4T (p.Ala4Thr) variant of ACE (Angiotensin-converting enzyme)
A4T (p.Ala4Thr) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- gnomAD 17-63477104-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.35
- MetaLR 0.05
- MetaSVM -1.02
- CADD 14.70
- Most common in the HGDP:LAHU population (allele frequency 1)
- Structural context available
- Literature evidence available