S5G (p.Ser5Gly) variant of ACE (Angiotensin-converting enzyme)
S5G (p.Ser5Gly) in ACE (Angiotensin-converting enzyme) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
S5G (p.Ser5Gly) variant details
- p.Ser5Gly
- rs2049627183
- gnomAD 17-63477098-GGGGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.492
- CADD 24.50
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.55)
- Structural context available
- Literature evidence available