P23A (p.Pro23Ala) variant of ACE (Angiotensin-converting enzyme)
P23A (p.Pro23Ala) 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 not provided; Microvascular complications of diabetes, susceptibility to, 3; Hem. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
P23A (p.Pro23Ala) variant details
- p.Pro23Ala
- rs1288779128
- ClinGen CA400538478
- ClinVar RCV002583024
- ClinVar RCV005025856
- Uncertain significance
- not provided; Microvascular complications of diabetes, susceptibility to, 3; Hem
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.04
- MetaSVM -1.08
- CADD 7.34
- ClinVar: Uncertain significance (not provided; Microvascular complications of diabetes, susceptib)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available