A4V (p.Ala4Val) variant of ACE (Angiotensin-converting enzyme)
A4V (p.Ala4Val) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- gnomAD 17-63477105-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.48
- MetaLR 0.06
- MetaSVM -1.01
- CADD 13.40
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.55)
- Structural context available
- Literature evidence available