S5W (p.Ser5Trp) variant of ACE (Angiotensin-converting enzyme)
S5W (p.Ser5Trp) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
S5W (p.Ser5Trp) variant details
- p.Ser5Trp
- TOPMed rs1296229818
- gnomAD rs1296229818
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.08
- MetaSVM -1.00
- CADD 14.40
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available