P17R (p.Pro17Arg) variant of ACE (Angiotensin-converting enzyme)
P17R (p.Pro17Arg) in ACE (Angiotensin-converting enzyme) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hemorrhage, intracerebral, susceptibility to; Renal tubular dysgenesis of geneti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
P17R (p.Pro17Arg) variant details
- p.Pro17Arg
- rs1441805434
- ClinGen CA400538385
- ClinVar RCV004432237
- ClinVar RCV005023529
- Uncertain significance
- Hemorrhage, intracerebral, susceptibility to; Renal tubular dysgenesis of geneti
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.04
- MetaSVM -1.07
- CADD 1.18
- ClinVar: Uncertain significance (Hemorrhage, intracerebral, susceptibility to; Renal tubular dysg)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00015)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)