G27V (p.Gly27Val) variant of AGXT (P21549)
G27V (p.Gly27Val) in AGXT (P21549) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G27V (p.Gly27Val) variant details
- p.Gly27Val
- ExAC rs765405040
- gnomAD rs765405040
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.63
- MetaLR 0.90
- MetaSVM 0.98
- CADD 23.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- AGXT complementation assay *1 b: score -0.0123