R8P (p.Arg8Pro) variant of ACE (Angiotensin-converting enzyme)
R8P (p.Arg8Pro) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
R8P (p.Arg8Pro) variant details
- p.Arg8Pro
- gnomAD 17-63477117-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0909
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.06
- MetaSVM -1.01
- CADD 4.50
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available
- Literature evidence available