S43R (p.Ser43Arg) variant of ACE2 (Angiotensin-converting enzyme 2)
S43R (p.Ser43Arg) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S43R (p.Ser43Arg) variant details
- p.Ser43Arg
- gnomAD rs1447927937
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.20
- CADD 18.10
- PolyPhen-2 0.90
- SIFT 0.30
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available