S47P (p.Ser47Pro) variant of ACE2 (Angiotensin-converting enzyme 2)
S47P (p.Ser47Pro) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S47P (p.Ser47Pro) variant details
- p.Ser47Pro
- gnomAD rs1928152107
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.38
- CADD 24.30
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available