S5A (p.Ser5Ala) variant of ACE (Angiotensin-converting enzyme)
S5A (p.Ser5Ala) in ACE (Angiotensin-converting enzyme) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
S5A (p.Ser5Ala) variant details
- p.Ser5Ala
- rs797045079
- gnomAD 17-63477105-CCTCG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.48
- CADD 21.80
- Most common in the HGDP:DRUZE population (allele frequency 0.015)
- Structural context available
- Cited in: A systematic approach to assessing the clinical significance of genetic variants. (PMID 24033266)
- Cited in: Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. (PMID 22095942)